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Issue Information
Human Mutation,Volume 39, Issue 10, Page 1301-1303, October 2018. (Source: Human Mutation)
Source: Human Mutation - September 19, 2018 Category: Genetics & Stem Cells Source Type: research

Hyaline fibromatosis syndrome: Clinical update and phenotype –genotype correlations
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - September 17, 2018 Category: Genetics & Stem Cells Authors: D ídacCasas‐Alba , AntonioMartínez‐Monseny , Rosa M.Pino‐Ramírez , LaiaAlsina , EsperanzaCastejón , SergiNavarro‐Vilarrubí , BelénPérez‐Dueñas , MercedesSerrano , FrancescPalau , AlfredoGarcía‐Alix Source Type: research

Mutation update for the GPC3 gene involved in Simpson –Golabi–Behmel syndrome and review of the literature
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - September 17, 2018 Category: Genetics & Stem Cells Authors: Marie ‐LaureVuillaume , Marie‐PierreMoizard , SylvieRossignol , EdouardCottereau , SandrineVonwill , Jean‐LucAlessandri , TiffanyBusa , EstelleColin , MarionGérard , FabienneGiuliano , LaetitiaLambert , MathildeLefevre , Udh Source Type: research

Diagnosis of Li ‐Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 14, 2018 Category: Genetics & Stem Cells Authors: KonstantinWeber ‐Lassalle , PhilippHarter , JanHauke , CorinnaErnst , StefanKommoss , FrederikMarmé , NanaWeber‐Lassalle , KatharinaPrieske , DimoDietrich , JulikaBorde , EstherPohl‐Rescigno , AlexanderReuss , BeyhanAtaseven Source Type: research

BRCA1 and BRCA2 5 ′ non‐coding region variants identified in breast cancer patients alter promoter activity and protein binding
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 11, 2018 Category: Genetics & Stem Cells Authors: Leslie J.Burke , JanSevcik , GaetanaGambino , EmmaTudini , Eliseos J.Mucaki , Ben C.Shirley , PhilipWhiley , Michael T.Parsons , KimDe Leeneer , SaraGuti érrez‐Enríquez , MartaSantamariña , Sandrine M.Caputo , ElizabethSanta Source Type: research

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel Syndrome
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 10, 2018 Category: Genetics & Stem Cells Authors: MartaLlorens ‐Agost , JannaLuessing , Amandinevan Beneden , JohnEykelenboom , DawnO'Reilly , Louise SBicknell , John JReynolds , Mariannevan Koegelenberg , Matthew EHurles , Angela FBrady , Andrew PJackson , Grant SStewart , Noe Source Type: research

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - September 7, 2018 Category: Genetics & Stem Cells Authors: Ahmad N.Abou Tayoun , TinaPesaran , Marina T.DiStefano , AndreaOza , Heidi L.Rehm , Leslie G.Biesecker , Steven M.Harrison , Source Type: research

The intellectual disability ‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - September 5, 2018 Category: Genetics & Stem Cells Authors: Martina ProiettiOnori , BalwinaKoopal , David B.Everman , Jessica D.Worthington , Julie R.Jones , Melissa A.Ploeg , EdwinMientjes , Bregje W.van Bon , TjitskeKleefstra , HowardSchulman , Steven A.Kushner , S ébastienKüry , YpeEl Source Type: research