Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.A348T
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CYP11B1

NM_000497.4:p.A348T

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Analysis of genetic alterations identifies the frequent mutation of GNAS in colorectal laterally spreading tumors.

Nong Y et al.

Cancer Communications (london, England), 2020

32762003 (PubMed )
Supplement: CAC2-40-636-s001.pdf

An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.

Ravegnini G et al.

The Pharmacogenomics Journal, 2019

Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.

Jung SH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29945994 (PubMed )
Supplement: 10780432ccr180345-sup-196274_3_supp_4826357_pjb33v.xlsx › Table_S2

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."