Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature-Reference-Cited by-同舟云学术

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature

Published:2017-01-18 Issue:8 Volume:54 Page:537-543
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Balasubramanian M^ORCID,Willoughby J,Fry A E,Weber A,Firth H V,Deshpande C,Berg J N,Chandler K,Metcalfe K A,Lam W,Pilz D T,Tomkins S

Publisher

BMJ

Subject

Genetics(clinical),Genetics

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3. DeNovoGear: de novo indel and point mutation discovery and phasing;Ramu;Nat Methods,2013

4. Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine;Katoh;Expert Rev Proteomics,2015

5. Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21);Duployez;Leuk Lymphoma,2016

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