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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKP2

Variant:p.V415delFs

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PKP2

NM_001005242.3:p.V415delFs

hg38:chr12:32850894 CCA>C

Associated Papers

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

Sono R et al.

Cells, 2023

37296576 (PubMed )

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