Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.N1172K
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KMT2A

NM_001197104.2:p.N1172K

Associated Papers

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

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.

Sun H et al.

Frontiers in Genetics, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."