Varaico: Literature-Extracted Genetic Variants

Gene:MYO3B
Variant:p.R185H
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MYO3B

NM_138995.5:p.R185H

Associated Papers

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.

Young C et al.

Hgg Advances, 2023

36299998 (PubMed )
Supplement: mmc1.pdf

Landscape of drug-resistance mutations in kinase regulatory hotspots.

Kim P et al.

Briefings in Bioinformatics, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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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."