Carletti, et al., A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function, Atherosclerosis 210 (2010) 177e182.Constantineau J, Greason E, West M, Filbin M, Kieft JS, Carletti MZ, et al. A synonymous variant in...
Extensive molecular screening of theBRCA1/2(BRCA)genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novelBRCA1synonymous variant discovered in a family with hereditary ovarian ...
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system doi:10.1002/ajmg.a.63823American Journal of Medical Genetics. Part AWang, YaopingWang, HongdanYang, WenkeGuo, HanZhang, MengtingGao, YueKang, BingLiao, ...
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French familyAndreea Apetrei aArnaud Molin aNicolas Gruchy aManon Godin a...
A non-synonymous variant, rs12614 (Arg32Trp) in exon2 of CFB, had significant associations with risk of CHB (odds ratio = 0.43, P = 5.91 × 10− 10). Additional linkage disequilibrium and conditional analysis confirmed that rs12614 had independent genetic effect on CHB ...
Association Between Non-Synonymous Variant in the MST1 Gene and IBD in Italian PopulationAssociation Between Non-Synonymous Variant in the MST1 Gene and IBD in Italian Populationdoi:10.1016/s1873-9946(09)60267-1Oxford University Press (OUP)Journal of Crohn's and Colitis...
Justin MillerBrigham Young University Provo UT USALauren McKinnonBrigham Young University Provo UT USAJosue D Gonzalez MurciaBrigham Young University Provo UT USAJohn KauweBrigham Young University Provo UT USAPerry G RidgeBrigham Young University Provo UT USA...
synonymous variantDilated cardiomyopathy (DCM) is one of the most common cardiac phenotypes caused by mutations of lamin A/C ( LMNA ) gene in humans. In our study, a cohort of 57 patients who underwent heart transplant for dilated cardiomyopathy was screened for variants in LMNA . We ...
Synonymous variantPurpose: The interleukin-7 receptor (IL-7R) is primarily expressed on lymphoid cells and plays a crucial role in the development, proliferation, and survival of T cells. Autosomal recessive mutations that disrupt IL-7R伪 chain expression give rise to a severe combined ...
Common synonymous variants are often disregarded. Determining the pathogenicity of synonymous variants may improve genetic diagnosis. We report a synonymous variant c.9861 C > T/p.(Gly3287=) in MYO15A in homozygosity or compound heterozygosity with another pathogenic or likely pathogenic MYO15A ...