Varaico: Literature-Extracted Genetic Variants

Gene:CLEC2L
Variant:p.H129delFs
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CLEC2L

NM_001080511.4:p.H129delFs

Associated Papers

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Morikawa H et al.

Human Genome Variation, 2023

36964172 (PubMed )
Supplement: 41439_2023_239_MOESM1_ESM.xlsx › candidate_variants
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