Associated Papers
When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
Micaglio E et al.
International Journal of Molecular Sciences, 2024
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Gong X et al.
Molecular Genetics & Genomic Medicine, 2022
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.
Sri A et al.
Case Reports in Pediatrics, 2019
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_S1A
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