Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.Q2552_I2553del2
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KMT2A

NM_001197104.2:p.Q2552_I2553del2

Associated Papers

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

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

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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."