Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.K2933fs
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KMT2D

NM_003482.4:p.K2933fs

Associated Papers

Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.

Qu X et al.

British Journal of Haematology, 2024

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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."