Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R3232*
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KMT2A

NM_001197104.2:p.R3232*

Associated Papers

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Yeter B et al.

European Journal of Pediatrics, 2025

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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