Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.Q503R
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PRKAG2

NM_016203.4:p.Q503R

Associated Papers

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Harmonizing variant classification for return of results in the All of Us Research Program.

Harrison SM et al.

Human Mutation, 2022

34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1

Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.

Köffer J et al.

International Journal of Legal Medicine, 2021

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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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."