Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.S982T
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KMT2A

NM_001197104.2:p.S982T

Associated Papers

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

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S et al.

Clinical Genetics, 2018

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM et al.

Nature, 2012

22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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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."