Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.K618delFs
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NSD1

NM_022455.5:p.K618delFs

Associated Papers

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Husson T et al.

European Journal of Human Genetics : Ejhg, 2024

37872275 (PubMed )
Supplement: 41431_2023_1474_MOESM2_ESM.xlsx › Supp_table_1
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