Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA3
Variant:p.R429W
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PPFIA3

NM_003660.4:p.R429W

Associated Papers

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Paul MS et al.

American Journal of Human Genetics, 2024

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Paul MS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."