Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.Q2516*
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KMT2A

NM_001197104.2:p.Q2516*

Associated Papers

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Wang M et al.

Bmc Pediatrics, 2025

40604511 (PubMed )
Supplement: 12887_2025_5751_MOESM3_ESM.xlsx › Sheet3

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

Romano F et al.

Birth Defects Research, 2025

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Giangiobbe S et al.

American Journal of Medical Genetics. Part A, 2020

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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."