Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.I360T
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PHKA1

NM_002637.4:p.I360T

Associated Papers

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Koch RL et al.

Npj Genomic Medicine, 2025

The genetics of autism spectrum disorder in an East African familial cohort.

Tuncay IO et al.

Cell Genomics, 2023

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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."