Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4329_P4337delFs
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KMT2D

NM_003482.4:p.Q4329_P4337delFs

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

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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