Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.P58L
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KMT2A

NM_001197104.2:p.P58L

Associated Papers

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Joustra SD et al.

Hormone Research in Paediatrics, 2025

38838658 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.docx

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

37471090 (PubMed )
Supplement: jamanetwopen-e2324380-s001.pdf
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