FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2997234015> ?p ?o ?g. }

• W2997234015 endingPage "24" @default.
• W2997234015 startingPage "24" @default.
• W2997234015 abstract "A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose of this study was to reclassify two RPE65 missense variants, c.247T>C (p.Phe83Leu) and c.560G>A (p.Gly187Glu), found in Brazilian families. To achieve this aim, we reviewed the sequencing data of a 224-gene retinopathy panel from 556 patients (513 families) with inherited retinal dystrophies. Five patients with p.Phe83Leu and seven with p.Gly187Glu were selected and their families investigated. To comprehend the pathogenicity of these variants, we evaluated them based on the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) classification guidelines. Initially, these RPE65 variants met only three pathogenic criteria: (i) absence or low frequency in the population, (ii) several missense pathogenic RPE65 variants, and (iii) 15 out of 16 lines of computational evidence supporting them as damaging, which together allowed the variants to be classified as uncertain significance. Two other pieces of evidence were accepted after further analysis of these Brazilian families: (i) p.Phe83Leu and p.Gly187Glu segregate with childhood retinal dystrophy within families, and (ii) their prevalence in Leber congenital amaurosis (LCA)/early-onset retinal dystrophy (EORD) patients can be considered higher than in other inherited retinal dystrophy patients. Therefore, these variants can now be classified as likely pathogenic according to ACMG/AMP classification guidelines." @default.
• W2997234015 created "2020-01-10" @default.
• W2997234015 creator A5021575838 @default.
• W2997234015 creator A5038260780 @default.
• W2997234015 creator A5039421619 @default.
• W2997234015 creator A5040130510 @default.
• W2997234015 creator A5055385735 @default.
• W2997234015 creator A5072754036 @default.
• W2997234015 creator A5073542491 @default.
• W2997234015 creator A5086550833 @default.
• W2997234015 date "2019-12-24" @default.
• W2997234015 modified "2023-10-03" @default.
• W2997234015 title "Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy" @default.
• W2997234015 cites W1543238073 @default.
• W2997234015 cites W1563940013 @default.
• W2997234015 cites W1719249858 @default.
• W2997234015 cites W1794082240 @default.
• W2997234015 cites W1889857300 @default.
• W2997234015 cites W1970413157 @default.
• W2997234015 cites W1973736804 @default.
• W2997234015 cites W1977823409 @default.
• W2997234015 cites W1980740976 @default.
• W2997234015 cites W1997371384 @default.
• W2997234015 cites W1998533469 @default.
• W2997234015 cites W2002584875 @default.
• W2997234015 cites W2004906535 @default.
• W2997234015 cites W2011582941 @default.
• W2997234015 cites W2011628798 @default.
• W2997234015 cites W2023769787 @default.
• W2997234015 cites W2024405748 @default.
• W2997234015 cites W2031303778 @default.
• W2997234015 cites W2033332981 @default.
• W2997234015 cites W2034379083 @default.
• W2997234015 cites W2036996443 @default.
• W2997234015 cites W2051978340 @default.
• W2997234015 cites W2057620101 @default.
• W2997234015 cites W2057737605 @default.
• W2997234015 cites W2057963465 @default.
• W2997234015 cites W2081964801 @default.
• W2997234015 cites W2087136636 @default.
• W2997234015 cites W2087518452 @default.
• W2997234015 cites W2088338354 @default.
• W2997234015 cites W2098642477 @default.
• W2997234015 cites W2102131183 @default.
• W2997234015 cites W2104549677 @default.
• W2997234015 cites W2109698455 @default.
• W2997234015 cites W2111326065 @default.
• W2997234015 cites W2112391462 @default.
• W2997234015 cites W2114029728 @default.
• W2997234015 cites W2129952088 @default.
• W2997234015 cites W2145187337 @default.
• W2997234015 cites W2145191876 @default.
• W2997234015 cites W2146356499 @default.
• W2997234015 cites W2148105023 @default.
• W2997234015 cites W2156859668 @default.
• W2997234015 cites W2160995259 @default.
• W2997234015 cites W2161978970 @default.
• W2997234015 cites W2162290849 @default.
• W2997234015 cites W2198061 @default.
• W2997234015 cites W2241720034 @default.
• W2997234015 cites W2253755643 @default.
• W2997234015 cites W2256016639 @default.
• W2997234015 cites W2314845028 @default.
• W2997234015 cites W2326889753 @default.
• W2997234015 cites W2405521491 @default.
• W2997234015 cites W2411345081 @default.
• W2997234015 cites W2535426958 @default.
• W2997234015 cites W2583025663 @default.
• W2997234015 cites W2597831855 @default.
• W2997234015 cites W2604078450 @default.
• W2997234015 cites W2770026599 @default.
• W2997234015 cites W2770401218 @default.
• W2997234015 cites W2802589674 @default.
• W2997234015 cites W2894534989 @default.
• W2997234015 cites W2897335860 @default.
• W2997234015 cites W2912491890 @default.
• W2997234015 cites W2949857618 @default.
• W2997234015 cites W2969582732 @default.
• W2997234015 cites W2978053412 @default.
• W2997234015 cites W2982498219 @default.
• W2997234015 cites W3136918052 @default.
• W2997234015 doi "https://doi.org/10.3390/genes11010024" @default.
• W2997234015 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7016655" @default.
• W2997234015 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31878136" @default.
• W2997234015 hasPublicationYear "2019" @default.
• W2997234015 type Work @default.
• W2997234015 sameAs 2997234015 @default.
• W2997234015 citedByCount "12" @default.
• W2997234015 countsByYear W29972340152020 @default.
• W2997234015 countsByYear W29972340152021 @default.
• W2997234015 countsByYear W29972340152022 @default.
• W2997234015 countsByYear W29972340152023 @default.
• W2997234015 crossrefType "journal-article" @default.
• W2997234015 hasAuthorship W2997234015A5021575838 @default.
• W2997234015 hasAuthorship W2997234015A5038260780 @default.
• W2997234015 hasAuthorship W2997234015A5039421619 @default.
• W2997234015 hasAuthorship W2997234015A5040130510 @default.
• W2997234015 hasAuthorship W2997234015A5055385735 @default.

• next