Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.S3582*
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KMT2A

NM_001197104.2:p.S3582*

Associated Papers

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Manav Yiğit Z et al.

Balkan Medical Journal, 2026

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Yue X et al.

Clinical Endocrinology, 2025

Genetic Analysis of De Novo Variants in KMT2A mixed-lineage leukemia Identified in a Family of Wiedermann-Steiner Syndromes.

Cao M et al.

Annals of Indian Academy of Neurology, 2024

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