A Search Service for Abbreviation / Long Form

■ Abbreviation / Long Form : PTVs / protein-truncating variants

[Related PubMed/MEDLINE]
Total Number of Papers: 22
[Entries Per Page]
 per page
Page Control
Page: of
Abbreviation:   PTVs  (>> Co-occurring Abbreviation)
Long Form:   protein-truncating variants
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2020 Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. ASD, RIGs
2020 Germline burden of rare damaging variants negatively affects human healthspan and lifespan. ---
2020 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism. CHH, FN3, GnRH, KS, NDNF
2020 The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. ---
2019 Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. ---
2019 Detectible mosaic truncating PPM1D mutations, age and breast cancer risk. PPM1D
2019 Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease. AF, CNVs, EO, NPD, OR, UCLH
2019 Exome-based search for recurrent disease-causing alleles in Russian population. XPV
2019 Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. ADA, CI, OR, PCa
10  2019 HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. ID, MRI
11  2019 Measuring intolerance to mutation in human genetics. pLI
12  2019 The clinical presentation caused by truncating CHD8 variants. ASDs, CHD8, ID
13  2018 Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. ARIC, ExAC, GOF, LOF, NMD, PTC
14  2018 Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series. HCM, HW, g
15  2018 Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease. PrCa
16  2017 Estimating the selective effects of heterozygous protein-truncating variants from human exome data. ---
17  2017 Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. CETP, CHD
18  2017 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. LOF
19  2016 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. OS, PC
20  2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. CHDs, DNMs
21  2015 Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. ---
22  2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. ---