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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPFIA3

Variant:p.S903fs

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PPFIA3

NM_003660.4:p.S903fs

hg38:chr19:49142966 TCG>N

Associated Papers

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Paul MS et al.

American Journal of Human Genetics, 2024

38181735 (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."