Intrafamilial variability of XYLT2-related spondyloocular syndrome
Author:
Funder
Hacettepe University
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference16 articles.
1. Spondyloocular syndrome: a new entity involving the eye and spine;Alanay;Am. J. Med. Genet.,2006
2. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules;Ashkenazy;Nucleic Acids Res.,2016
3. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am. J. Med. Genet.,2015
4. Prediction of protein stability changes for single‐site mutations using support vector machines;Cheng;Proteins: Structure, Function, and Bioinformatics,2006
5. Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis;Condac;Proc. Natl. Acad. Sci. Unit. States Am.,2007
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