Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.T375_Q378delFs
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PKP2

NM_001005242.3:p.T375_Q378delFs

Associated Papers

Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation.

Li X et al.

Functional & Integrative Genomics, 2026

Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

Mak CM et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018

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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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."