Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4329fs
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KMT2D

NM_003482.4:p.Q4329fs

Associated Papers

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Baldridge D et al.

American Journal of Medical Genetics. Part A, 2020

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

Verhagen JM et al.

European Journal of Medical Genetics, 2014

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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."