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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.Y2627fs

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KMT2D

NM_003482.4:p.Y2627fs

hg38:chr12:49039891 GTA>N

Associated Papers

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

28884922 (PubMed )

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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."