Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.E2419*
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KMT2A

NM_001197104.2:p.E2419*

Associated Papers

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Ballesta-Martínez MJ et al.

Orphanet Journal of Rare Diseases, 2023

37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf
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