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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHAF1A

Variant:p.K459_T460Splc

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CHAF1A

NM_005483.3:p.K459_T460Splc

hg38:chr19:4423875 G>A

Associated Papers

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Pingault V et al.

European Journal of Human Genetics : Ejhg, 2025

39333427 (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."