Varaico: Literature-Extracted Genetic Variants

Gene:PAN2
Variant:p.R299C
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PAN2

NM_014871.6:p.R299C

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Genome-wide characteristics of de novo mutations in autism.

Yuen RK et al.

Npj Genomic Medicine, 2016

27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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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."