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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RINT1

Variant:p.C206_T207delFs

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RINT1

NM_021930.6:p.C206_T207delFs

hg38:chr7:105547011 GTA>G

Associated Papers

Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.

Aoki T et al.

Journal of Human Genetics, 2026

40940405 (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."