Varaico: Literature-Extracted Genetic Variants

Gene:PTGDS
Variant:p.R42_W43insFs
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PTGDS

NM_000954.6:p.R42_W43insFs

Associated Papers

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_3_LOF_Novel_CMP_genes
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