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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IBA57

Variant:p.Y113C

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IBA57

NM_001010867.4:p.Y113C

hg38:chr1:228166154 A>G

Associated Papers

Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys).

Chettiyappa MB et al.

Stem Cell Research, 2025

41108822 (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."