https://www.jci.org/articles/view/196712/pdf
JCI - A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent...
missense mutation
https://pmc.ncbi.nlm.nih.gov/articles/PMC11167750/
A DIO2 missense mutation and its impact on fetal response to PRRSV infection - PMC
Porcine reproductive and respiratory syndrome virus 2 (PRRSV-2) infection during late gestation substantially lowers fetal viability and survival. In a...
https://www.wikidata.org/wiki/Q34062140
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin...
https://www.genome.gov/genetics-glossary/Missense-Mutation?id=127
Missense Mutation
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
missensemutation
https://www.preprints.org/manuscript/202407.0355
A Novel de Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic...
Objectives: To investigate the etiology of amyotrophic lateral sclerosis (ALS) in an adult female patient. Methods: We conducted trio genome sequencing on a...
https://www.jci.org/assets/353162/powerpoint
JCI - Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase