Varaico: Literature-Extracted Genetic Variants

Gene:TTYH1
Variant:p.G86R
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TTYH1

NM_020659.4:p.G86R

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

Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study.

Kim HK et al.

Integrative Medicine Research, 2017

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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."