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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBCK1

Variant:p.L231delFs

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RBCK1

NM_001323956.2:p.L231delFs

hg38:chr20:427483 GC>G

Associated Papers

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

MozafaryBazargany M et al.

Esc Heart Failure, 2024

38329383 (PubMed )

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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."