Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K1
Variant:p.R186G
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MAP3K1

NM_005921.2:p.R186G

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

A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.

Rudnicka E et al.

Journal of Clinical Medicine, 2024

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development.

Chen H et al.

Frontiers in Genetics, 2022

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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."