Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4103*
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KMT2D

NM_003482.4:p.Q4103*

Associated Papers

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Shangguan H et al.

Orphanet Journal of Rare Diseases, 2019

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.

Lin JL et al.

Clinical Genetics, 2015

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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."