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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USB1

Variant:p.H247_Q250del0

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USB1

NM_024598.4:p.H247_Q250del0

hg38:chr16:58020184 TGCACACTGA>T

Associated Papers

A novel mutation in poikiloderma with neutropenia- Clericuzio type in an adult female.

Chawla H et al.

Indian Journal of Dermatology, Venereology and Leprology, 2025

40587556 (PubMed )

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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."