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Corrigendum
Human Mutation,Volume 39, Issue 10, Page 1468-1468, October 2018. (Source: Human Mutation)
Source: Human Mutation - August 29, 2018 Category: Genetics & Stem Cells Source Type: research

Association analysis of exome variants and refraction, axial length, and corneal curvature In a European American population
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 29, 2018 Category: Genetics & Stem Cells Authors: CandelariaVergara , Samantha M.Bomotti , CristianValencia , Barbara E.K.Klein , Kristine E.Lee , RonaldKlein , Alison P.Klein , PriyaDuggal Source Type: research

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 29, 2018 Category: Genetics & Stem Cells Authors: Jorge L.Granadillo , Wendy K.Chung , LeahHecht , NicoleCorsten ‐Janssen , DanielWegner , Sebastiaan W.A. NijBijvank , Tomi L.Toler , Daniel E.Pineda‐Alvarez , GankaDouglas , Joshua J.Murphy , JoshuaShimony , MarwanShinawi Source Type: research

RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 28, 2018 Category: Genetics & Stem Cells Authors: Abby M.Hodges , Aron W.Fenton , Larissa L.Dougherty , Andrew C.Overholt , LiskinSwint ‐Kruse Source Type: research

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 27, 2018 Category: Genetics & Stem Cells Authors: Ritu , ChitraNarasimhan , Vijyalakshmi I.Balekundri , DamyantiAgrawal , AshokKumar , BhagyalaxmiMohapatra Source Type: research

Relationship of electrophysiological dysfunction and clinical severity in SCN2A ‐related epilepsies
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 24, 2018 Category: Genetics & Stem Cells Authors: StephanLauxmann , Nienke E.Verbeek , YuanyuanLiu , MarianaZaichuk , StephanM üller , Johannes R.Lemke , Marjan J. A.van Kempen , HolgerLerche , Ulrike B.S.Hedrich Source Type: research

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: BurcuTurkgenc , BurcinSanlidag , AmberEker , AslIGiray , OzgurKutuk , CengizYakicier , Asl ıhanTolun , Sehime GTemel Source Type: research

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: NicoleWeisschuh , KatarinaStingl , IsabelleAudo , SaskiaBiskup , B éatriceBocquet , KariBranham , Marie SBurstedt , ElfrideDe Baere , Meindert JDe Vries , IrinaGolovleva , AndrewGreen , JohnHeckenlively , Bart PLeroy , Isabell Source Type: research