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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.T4110fs

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KMT2D

NM_003482.4:p.T4110fs

hg38:chr12:49032377 TGT>N

Associated Papers

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.

So PL et al.

American Journal of Medical Genetics. Part A, 2021

33314698 (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."