Varaico: Literature-Extracted Genetic Variants

Gene:TGM5
Variant:p.V273M
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TGM5

NM_201631.4:p.V273M

Associated Papers

WES-based screening of 7,000 newborns: A pilot study in Russia.

Shubina J et al.

Hgg Advances, 2024

39033325 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W et al.

The British Journal of Dermatology, 2014

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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."