Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.L1030fs
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MYBPC3

NM_000256.3:p.L1030fs

Associated Papers

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Lesurf R et al.

Npj Genomic Medicine, 2022

35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_1_CodingSnvIndels_CMP
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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."