missense mutation
Sign in to saveAlso known as Mutation, Missense, missense variant, missense
genetic point mutation that results in an amino acid change in a protein
Research
61,424 papers- A missense mutation in ISPD contributes to maintain muscle fiber stability.Poultry science · 2022
- A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa.Molecular genetics and genomics : MGG · 2022
- A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.Journal of assisted reproduction and genetics · 2021
- A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.World journal of pediatrics : WJP · 2022
- p53 Missense Mutation is Associated with Immune Cell PD-L1 Expression in Triple-Negative Breast Cancer.Cancer investigation · 2022
via PubMed
Wikidata facts
- Official website
- www.sequenceontology.org/browser/current_svn/term/SO:0001583
Show 3 more facts
- Commons category
- Missense mutation
- exact match
- purl.obolibrary.org/obo/SO_0001583
- NCI Thesaurus ID
- C18133
via Wikidata · CC0
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