Varaico: Literature-Extracted Genetic Variants

Gene:POGK
Variant:p.T366M
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POGK

NM_017542.5:p.T366M

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

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S3
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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."