Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.M2783fs
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KMT2A

NM_001197104.2:p.M2783fs

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

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Shangguan H et al.

European Journal of Pediatrics, 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."