Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.S1114*
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KMT2A

NM_001197104.2:p.S1114*

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

Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Park S et al.

Scientific Reports, 2023

37142644 (PubMed )
Supplement: 41598_2023_33928_MOESM2_ESM.xlsx › Supplementary_Table_2
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