Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
about
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrumNovel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins.
P2860
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
@wuu
2017年学术文章
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2017年学术文章
@zh-cn
2017年学术文章
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2017年学术文章
@zh-my
2017年学术文章
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2017年學術文章
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2017年學術文章
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name
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@en
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@nl
type
label
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@en
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@nl
prefLabel
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@en
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@nl
P2093
P2860
P50
P356
P1476
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
@en
P2093
Aritoshi Iida
Eva Horemuzova
Gen Nishimura
Naomichi Matsumoto
Noriko Miyake
Shiro Ikegawa
Zheng Wang
P2860
P2888
P304
P356
10.1038/JHG.2016.157
P577
2017-01-26T00:00:00Z