Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S4070fs
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KMT2D

NM_003482.4:p.S4070fs

Associated Papers

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

Deng XX et al.

Bmc Pediatrics, 2023

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-7.xlsx › Table_S6A
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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."