Varaico: Literature-Extracted Genetic Variants

Gene:CLEC1A
Variant:p.S6R
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CLEC1A

NM_016511.4:p.S6R

Associated Papers

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A et al.

Human Molecular Genetics, 2023

36067010 (PubMed )
Supplement: supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx › HI-DEPDC5_commun_variants_
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