Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.A59fs
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KMT2A

NM_001197104.2:p.A59fs

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

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

Silveira HG et al.

Genes, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
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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."