Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
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Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective studyContribution of Inhibitor of DNA Binding/Differentiation-3 and Endocrine Disrupting Chemicals to Pathophysiological Aspects of Chronic Disease.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.Autism and heritable bone fragility: A true association?
P2860
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
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2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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name
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@en
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@nl
type
label
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@en
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@nl
prefLabel
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@en
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
@nl
P2093
P2860
P50
P1433
P1476
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
@en
P2093
F Shackley
M J Parker
N J Bishop
P2860
P356
10.1016/J.BONE.2016.10.023
P50
P577
2016-10-24T00:00:00Z