https://www.mdpi.com/2073-4425/10/5/386
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to...
White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color...
missense variant
https://pmc.ncbi.nlm.nih.gov/articles/PMC9606386/
The recurrent de novo c.2011CT missense variant in MTSS2 causes syndromic intellectual disability...
MTSS2, also known as MTSS1L, binds to plasma membranes and modulates their bending. MTSS2 is highly expressed in the central nervous system (CNS) and appears...
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.933785/full
Frontiers | Case Report: Identification of a novel CASK missense variant in a Chinese family with...
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare genetic disorder that results in varying levels of pontocerebel...
https://www.rcsb.org/structure/6UO6
RCSB PDB - 6UO6: Crystal Structure of the R422Q missense variant of human PGM1
Crystal Structure of the R422Q missense variant of human PGM1
rcsb pdbcrystal structureof the
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1406819/full
Frontiers | SMN1 c.5CG (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis...
IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely ...