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DMD genotype correlations from duchenneConnect: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation sub ‐type
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 16, 2018 Category: Genetics & Stem Cells Authors: Richard T.Wang , FlorianBarthelemy , Ann S.Martin , Emilie D.Douine , AsciaEskin , AnnLucas , JeniferLavigne , HollyPeay , NegarKhanlou , LeeSweeney , Rita M.Cantor , M. CarrieMiceli , Stanley FNelson Source Type: research

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 14, 2018 Category: Genetics & Stem Cells Authors: PilarMur , Ann ‐SofieJemth , LukaBevc , NunoAmaral , MatildeNavarro , RafaelValdés‐Mas , TirsoPons , GemmaAiza , MiguelUrioste , AlfonsoValencia , ConxiLázaro , VictorMoreno , Xose S.Puente , PålStenmark , UlrikaWarpman Source Type: research

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 14, 2018 Category: Genetics & Stem Cells Authors: RamanKumar , AlisonGardner , Claire C.Homan , EvelynDouglas , HeatherMefford , DagmarWieczorek , Hermann ‐JosefLüdecke , ZornitzaStark , SimonSadedin , , Catherine BearceNowak , JessicaDouglas , GretchenParsons , PaulMark , Source Type: research

Cover Image, Volume 39, Issue 7
Human Mutation,Volume 39, Issue 7, Page i-i, July 2018. (Source: Human Mutation)
Source: Human Mutation - June 11, 2018 Category: Genetics & Stem Cells Authors: LorenaTremi ño , AliciaForcada‐Nadal , VicenteRubio Source Type: research

Issue Information
Human Mutation,Volume 39, Issue 7, Page 883-885, July 2018. (Source: Human Mutation)
Source: Human Mutation - June 11, 2018 Category: Genetics & Stem Cells Source Type: research

Cover Image, Volume 39, Issue 7
Human Mutation,Volume 39, Issue 7, Page i-i, July 2018. (Source: Human Mutation)
Source: Human Mutation - June 11, 2018 Category: Genetics & Stem Cells Authors: LorenaTremi ño , AliciaForcada‐Nadal , VicenteRubio Source Type: research

Issue Information
Human Mutation,Volume 39, Issue 7, Page 883-885, July 2018. (Source: Human Mutation)
Source: Human Mutation - June 11, 2018 Category: Genetics & Stem Cells Source Type: research

Real ‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - June 8, 2018 Category: Genetics & Stem Cells Authors: EdoardoGiacopuzzi , MattiaLaffranchi , RominaBerardelli , ViolaRavasio , IlariaFerrarotti , BibekGooptu , GiuseppeBorsani , AnnamariaFra Source Type: research

Improved, ACMG ‐compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 6, 2018 Category: Genetics & Stem Cells Authors: CristinaFortuno , Paul A.James , Erin L.Young , BingFeng , MagaliOlivier , TinaPesaran , Sean V.Tavtigian , Amanda B.Spurdle Source Type: research

Autosomal ‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: LyseRuaud , Gillian I.Rice , ChristelleCabrol , JuliettePiard , MathieuRodero , Lienvan Eyk , EliseBoucher ‐Brischoux , Alain Maertensde Noordhout , RicardoMaré , EmmanuelScalais , FernandPauly , François‐GuillaumeDebray , Source Type: research

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: YohanBignon , AlexiAlekov , NadiaFrachon , OlivierLahuna , CarineJean ‐Baptiste Doh‐Egueli , GeorgesDeschênes , RosaVargas‐Poussou , StéphaneLourdel Source Type: research