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Abbreviation : PTVs
Long Form : protein-truncating variants
No. Year Title Co-occurring Abbreviation
2021 ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease. CAD, T2D
2021 Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population. OR
2021 Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. DCM, NRAP
2021 CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery. CMTs, WGS
2021 Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses. HR, WES
2021 Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore. PALB2
2021 Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. ---
2021 Germline breast cancer susceptibility genes, tumor characteristics, and survival. ---
2021 Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome. ---
10  2021 Nonsense-mediated decay is highly stable across individuals and tissues. NMD
11  2021 Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. TOF, VEGFR2
12  2020 Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function. ---
13  2020 Functional and clinical implications of genetic structure in 1686 Italian exomes. ACMG
14  2020 Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. ASD, RIGs
15  2020 Germline burden of rare damaging variants negatively affects human healthspan and lifespan. ---
16  2020 The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. ---
17  2019 Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. ---
18  2019 Detectible mosaic truncating PPM1D mutations, age and breast cancer risk. PPM1D
19  2019 Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease. AF, CNVs, EO, NPD, OR, UCLH
20  2019 Exome-based search for recurrent disease-causing alleles in Russian population. XPV
21  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
22  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
23  2019 Measuring intolerance to mutation in human genetics. pLI
24  2019 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism. CHH, FN3, GnRH, KS, NDNF
25  2019 The clinical presentation caused by truncating CHD8 variants. ASDs, CHD8, ID
26  2018 Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. ARIC, ExAC, GOF, LOF, NMD, PTC
27  2018 Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series. HCM, HW, g
28  2018 Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease. PrCa
29  2017 Estimating the selective effects of heterozygous protein-truncating variants from human exome data. ---
30  2017 Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. CETP, CHD
31  2017 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. LOF
32  2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. CHDs, DNMs
33  2015 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. OS, PC
34  2015 Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. ---
35  2012 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. ---