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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

• Authors : Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry

Subjects: Cell Nucleus/genetics; Child; Chromatin

• Source: Thomas , Q , Motta , M , Gautier , T , Zaki , M S , Ciolfi , A , Paccaud , J , Girodon , F , Boespflug-Tanguy , O , Besnard , T , Kerkhof , J , McConkey , H , Masson , A , Denommé-Pichon , A-S ,

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Subjects: Adolescent; Adult; Animals

• Source: Care4Rare Canada Consortium 2021 , ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ' , American Journal of Human Genetics ,

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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

• Authors : Taylor, Rachel L; Black, Graeme

Subjects: infantile cataract; exome sequencine; loss-of-function

• Source: Taylor , R L & Black , G 2018 , ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ' , American Journal of Human Genetics , vol. 103 , no. 4 , pp.

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Adaptive response to wine selective pressures shapes the genome of a Saccharomyces interspecies hybrid

• Authors : Lairón-Peris, María; Castiglioni, Gabriel L.; Routledge, Sarah J.

• Source: Lairón-Peris , M , Castiglioni , G L , Routledge , S J , Alonso-del-Real , J , Linney , J A , Pitt , A R , Melcr , J , Goddard , A D , Barrio , E & Querol , A 2021 , ' Adaptive response to wine

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Characterization and drug sensitivity of a novel human ovarian clear cell carcinoma cell line genomically and phenotypically similar to the original tumor

• Authors : Franklin, Miriam; Gentles, Lucy; Matheson, Elizabeth

Subjects: ResearchInstitutes_Networks_Beacons/mcrc; Manchester Cancer Research Centre

• Source: Franklin , M , Gentles , L , Matheson , E , Bown , N , Cross , P , Ralte , A , Gilkes-immeson , C , Bradbury , A , Zanjirband , M , Lunec , J , Drew , Y , O'donnell , R & Curtin , N J 2018 , '

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Allele-Specific HLA Loss and Immune Escape in Lung Cancer Evolution

• Authors : McGranahan, N; Rosenthal, R; Hiley, CT

Subjects: ResearchInstitutes_Networks_Beacons/mcrc; Manchester Cancer Research Centre

• Source: McGranahan , N , Rosenthal , R , Hiley , CT , Rowan , AJ , Watkins , TBK , Wilson , GA , Birkbak , NJ , Veeriah , S , Van Loo , P , Herrero , J , Swanton , C , Blackhall , F & Crosbie , P 2017 , '

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Lung tumors with distinct p53 mutations respond similarly to p53 targeted therapy but exhibit genotype-specific statin sensitivity

• Authors : Turrell, FK; Kerr, EM; Gao, M

Subjects: mutant p53; lung tumors; transcriptome analysis

• Source: Turrell , FK , Kerr , EM , Gao , M , Thorpe , H , Doherty , GJ , Cridge , J , Shorthouse , D , Speed , A , Samarajiwa , S , Hall , BA , Griffiths , M & Martins , CP 2017 , ' Lung tumors with distinct

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

• Authors : Rebbeck, Timothy R; Friebel, Tara M; Mitra, Nandita

• Source: Rebbeck , T R , Friebel , T M , Mitra , N , Wan , F , Chen , S , Andrulis , I L , Apostolou , P , Arnold , N , Arun , B K , Barrowdale , D , Benitez , J , Berger , R , Berthet , P , Borg , A , Buys ,

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