mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23125
Abstract: Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and… read more here.
Keywords: exome sequencing; pathogenic sequence; web server; sequence variants ... See more keywords
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1928
Abstract: In Ashkenazi Jews (AJ) three recurring pathogenic sequence variants (PSVs) are detected in ~2.5% of the general population in the BRCA1 (c.68_69del = 185delAG, c.5266dup = 5382insC), and BRCA2 (c.5946del = 6174delT). Population‐based screening for… read more here.
Keywords: pathogenic sequence; ashkenazi jews; based screening; population based ... See more keywords
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
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DOI: 10.1212/nxg.0000000000000660
Abstract: Background and Objectives We report the pathogenic sequence variant m.5789T>C in the anticodon stem of the mitochondrial tRNA for cysteine as a novel cause of neuropathy, ataxia, and retinitis pigmentosa (NARP), which is usually associated… read more here.
Keywords: pathogenic sequence; sequence; mitochondrial genome; narp syndrome ... See more keywords
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
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DOI: 10.3390/genes11111288
Abstract: A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and… read more here.
Keywords: variants nr2e3; pathogenic sequence; novel pathogenic; sequence variants ... See more keywords