https://pubmed.ncbi.nlm.nih.gov/24852293/
Mutations in SETD2 cause a novel overgrowth condition
Our results illustrate the power of targeted next-generation sequencing to identify rare disease-causing variants. We provide a compelling argument for Sotos...
a novelmutationscauseovergrowthcondition
https://www.ncbi.nlm.nih.gov/clinvar/RCV000122051/
NM_014159.7(SETD2):c.4193TC (p.Ile1398Thr) AND not specified - ClinVar - NCBI
ClinVar archives and aggregates information about relationships among variation and human health.
https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1114461/full
Frontiers | Histone methyltransferase SETD2: An epigenetic driver in clear cell renal cell carcinoma
SET domain-containing 2 (SETD2) is a lysine methyltransferase that catalyzes histone H3 lysine36 trimethylation (H3K36me3) and has been revealed to play impo...
histone methyltransferase