Varaico: Literature-Extracted Genetic Variants

Gene:ADPRM
Variant:p.V22I
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ADPRM

NM_020233.5:p.V22I

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › proband.xlsx › Sheet1

Muscle AMP deaminase activity was lower in Neandertals than in modern humans.

Macak D et al.

Nature Communications, 2025

40640132 (PubMed )
Supplement: 41467_2025_61605_MOESM1_ESM.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."