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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.S4070delFs

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KMT2D

NM_003482.4:p.S4070delFs

hg38:chr12:49032494 CAG>C

Associated Papers

Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.

Deng XX et al.

Bmc Pediatrics, 2023

37641008 (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."