Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K1
Variant:p.K190N
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MAP3K1

NM_005921.2:p.K190N

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

Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis.

Yu PH et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

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