Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
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Title
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume 62, Issue 4, Pages 503-506
Publisher
Springer Nature
Online
2017-01-26
DOI
10.1038/jhg.2016.157
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Note: Only part of the references are listed.- Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
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- NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
- (2012) Joyce El Hokayem et al. JOURNAL OF MEDICAL GENETICS
- Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
- (2012) Chih-Ping Chen et al. Taiwanese Journal of Obstetrics & Gynecology
- Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene
- (2012) Chih-Ping Chen et al. Taiwanese Journal of Obstetrics & Gynecology
- NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
- (2011) Christian Thiel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Axial spondylometaphyseal dysplasia: Additional reports
- (2011) Shigeru Suzuki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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