Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.R61W
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ATP2B3

NM_001001344.3:p.R61W

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
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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."