Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.D958fs
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PEX1

NM_000466.3:p.D958fs

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
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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."