Varaico: Literature-Extracted Genetic Variants

Gene:PLCB3
Variant:p.E372K
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PLCB3

NM_000932.5:p.E372K

Associated Papers

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G et al.

Human Genetics, 2023

37183190 (PubMed )
Supplement: 439_2023_2552_MOESM1_ESM.xlsx › Supplementary_Table_1
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