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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIBAR1

Variant:p.A158P

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CIBAR1

NM_145269.5:p.A158P

hg38:chr8:93709804 G>C

Associated Papers

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).

Umair M et al.

Clinical Genetics, 2024

38853702 (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."