Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2095insFs
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KMT2D

NM_003482.4:p.R2095insFs

Associated Papers

[Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene].

Huang J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

Priestley JRC et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023

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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."