Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.A340V
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KMT5B

NM_017635.5:p.A340V

Associated Papers

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Quaio CRD'C et al.

Scientific Reports, 2022

35546177 (PubMed )
Supplement: 41598_2022_11932_MOESM1_ESM.xlsx › Supplementary_Table_-_Data

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc3.xlsx › B__Coding_mutations_CTRL
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