Varaico: Literature-Extracted Genetic Variants

Gene:RINT1
Variant:p.A479P
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RINT1

NM_021930.6:p.A479P

Associated Papers

Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings.

Nuzhnaya Е et al.

Human Genomics, 2025

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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."