Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-03911-8
Abstract: Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted… read more here.
Keywords: predicted loss; disease; plof variants; loss function ... See more keywords
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Sign Up to like & getrecommendations! Published in 2023 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006260
Abstract: Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically characterized by skeletal… read more here.
Keywords: missense; predicted loss; variant; type viii ... See more keywords