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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.H3037insFs

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KMT2D

NM_003482.4:p.H3037insFs

hg38:chr12:49038246 T>TG

Associated Papers

Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.

Brackmann F et al.

Journal of Pediatric Hematology/oncology, 2013

23042018 (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."