"variant prioritisation" trang 10 - tải miễn phí từ tailieuXANH
A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
6    49    0
Intranasal perillyl alcohol therapy improves survival of patients with recurrent glioblastoma harboring mutant variant for MTHFR rs1801133 polymorphism

Intranasal perillyl alcohol therapy improves survival of patients with recurrent glioblastoma harboring mutant variant for MTHFR rs1801133 polymorphism
10    40    0
R269C variant of ESR1: High prevalence and differential function in a subset of pancreatic cancers

R269C variant of ESR1: High prevalence and differential function in a subset of pancreatic cancers
15    73    0
Association of newly identified genetic variant rs2853677 of TERT with non-small cell lung cancer and leukemia in population of Jammu and Kashmir, India

Association of newly identified genetic variant rs2853677 of TERT with non-small cell lung cancer and leukemia in population of Jammu and Kashmir, India
8    62    0
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: A case–control study

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: A case–control study
8    51    0
Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells

Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells
14    69    0
Histone profiling reveals the H1.3 histone variant as a prognostic biomarker for pancreatic ductal adenocarcinoma

Histone profiling reveals the H1.3 histone variant as a prognostic biomarker for pancreatic ductal adenocarcinoma
9    70    0
Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women

Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women
14    83    0
Prognostic value of OCT4A and SPP1C transcript variant co-expression in earlystage lung adenocarcinoma

Prognostic value of OCT4A and SPP1C transcript variant co-expression in earlystage lung adenocarcinoma
13    44    0
The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database

The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database
6    59    0
Invasive cystic hypersecretory carcinoma of the breast: A rare variant of breast cancer: A case report and review of the literature

Invasive cystic hypersecretory carcinoma of the breast: A rare variant of breast cancer: A case report and review of the literature
5    60    0
Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study

Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study
8    61    0
A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: A survival cohort analysis

A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: A survival cohort analysis
8    65    0
Overexpression of KCNJ3 gene splice variants affects vital parameters of the malignant breast cancer cell line MCF-7 in an opposing manner

Overexpression of KCNJ3 gene splice variants affects vital parameters of the malignant breast cancer cell line MCF-7 in an opposing manner
15    77    0
Evaluation of KIF23 variant 1 expression and relevance as a novel prognostic factor in patients with hepatocellular carcinoma

Evaluation of KIF23 variant 1 expression and relevance as a novel prognostic factor in patients with hepatocellular carcinoma
9    54    0
A machine learning approach to optimizing cell-free DNA sequencing panels: With an application to prostate cancer

A machine learning approach to optimizing cell-free DNA sequencing panels: With an application to prostate cancer
9    60    0
Phosphorylation of a splice variant of collapsin response mediator protein 2 in the nucleus of tumour cells links cyclin dependent kinase-5 to oncogenesis

Phosphorylation of a splice variant of collapsin response mediator protein 2 in the nucleus of tumour cells links cyclin dependent kinase-5 to oncogenesis
16    62    0
A functional genetic variant in fragile-site gene FATS modulates the risk of breast cancer in triparous women

A functional genetic variant in fragile-site gene FATS modulates the risk of breast cancer in triparous women
11    50    0
The truncated splice variant of peroxisome proliferator-activated receptor alpha, PPARαtr, autonomously regulates proliferative and pro-inflammatory genes

The truncated splice variant of peroxisome proliferator-activated receptor alpha, PPARαtr, autonomously regulates proliferative and pro-inflammatory genes
15    519    0
Expression of an estrogen-regulated variant transcript of the peroxisomal branched chain fatty acid oxidase ACOX2 in breast carcinomas

Expression of an estrogen-regulated variant transcript of the peroxisomal branched chain fatty acid oxidase ACOX2 in breast carcinomas
13    62    0
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