Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.G1007C
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KMT2A

NM_001197104.2:p.G1007C

Associated Papers

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Foroutan A et al.

International Journal of Molecular Sciences, 2022

The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

da Costa LT et al.

Clinics (sao Paulo, Brazil), 2021

Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.

Alves-Leon SV et al.

Frontiers in Genetics, 2021

33815474 (PubMed )
Supplement: Table_2.XLSX › Table_XX

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N et al.

European Journal of Human Genetics : Ejhg, 2017

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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."