Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.S2565_E2566delFs
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KMT2A

NM_001197104.2:p.S2565_E2566delFs

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

Wiedemann-Steiner Syndrome: Case Report and Review of Literature.

Yu H et al.

Children (basel, Switzerland), 2022

36291481 (PubMed )
Supplement: children-09-01545-s001.zip › children-1912335-supplementary.pdf

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Chan AJS et al.

Npj Genomic Medicine, 2019

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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."