Varaico: Literature-Extracted Genetic Variants

Gene:APC2
Variant:p.R487C
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APC2

NM_005883.3:p.R487C

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

AHDC1 missense mutations in Xia-Gibbs syndrome.

Khayat MM et al.

Hgg Advances, 2021

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P et al.

Npj Genomic Medicine, 2019

31452935 (PubMed )
Supplement: 41525_2019_93_MOESM8_ESM.xlsx › Mosaic_calls
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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."