"Function mutations" refers to changes or alterations that occur in the genetic code or DNA sequence, which can lead to changes in how a specific protein or biological function is performed or carried out within a living organism.
Sentences with «function mutations»
Loss of function mutations in human Oligophrenin1 (OPHN1) gene are responsible for syndromic intellectual disability (ID) associated with cerebellar hypoplasia and cerebral ventricles enlargement. (inb.u-bordeaux2.fr)
Of the genotyped Icelanders, 7.7 % are homozygotes or compound heterozygotes for loss - of - function mutations with a minor allele frequency (MAF) below 2 % in 1,171 genes (complete knockouts). (nature.com)
The first is that the Mstn loss - of - function mutation exerts a maternal effect such that muscle mass of the fetus is influenced by the number of functional Mstn alleles in the mother. (journals.plos.org)