Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.W222*
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PEX6

NM_000287.4:p.W222*

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Ge L et al.

Open Medicine (warsaw, Poland), 2024

39588385 (PubMed )
Supplement: med-2024-0916-sm2.xlsx › Additional_File_2
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