Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K1
Variant:p.M312L
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MAP3K1

NM_005921.2:p.M312L

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-supplementary.pdf

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.

Cheng Y et al.

Molecular Medicine Reports, 2022

[Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene].

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Al Shamsi A et al.

Molecular Genetics & Genomic Medicine, 2020

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › Combined_nonsilent_HR_

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N et al.

Breast Cancer Research : Bcr, 2018

29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Granados A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2
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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."