Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.W407insFs
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CAPN12

NM_144691.4:p.W407insFs

Associated Papers

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Liu JW et al.

Molecular Genetics & Genomic Medicine, 2024

38702946 (PubMed )
Supplement: MGG3-12-e2431-s001.docx
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