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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.Q2743_D2744Splc

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KMT2D

NM_003482.4:p.Q2743_D2744Splc

hg38:chr12:49039360 T>C

Associated Papers

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Doğan Arı AB et al.

European Journal of Medical Genetics, 2025

41061959 (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."