Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.L3627fs
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KMT2D

NM_003482.4:p.L3627fs

Associated Papers

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Huang Z et al.

Jama Network Open, 2023

37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Shangguan H et al.

Orphanet Journal of Rare Diseases, 2019

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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."