Cerebral visual impairment and intellectual disability caused by PGAP1 variants
about
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.Novel genetic causes for cerebral visual impairmentpigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.Molecular subtyping and improved treatment of neurodevelopmental disease.Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
P2860
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@ast
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@en
type
label
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@ast
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@en
prefLabel
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
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Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@en
P2093
P2860
P356
P1476
Cerebral visual impairment and intellectual disability caused by PGAP1 variants
@en
P2093
Bert B A de Vries
Daniëlle G M Bosch
F Nienke Boonstra
Frans P M Cremers
James R Lupski
Shalini Jhangiani
Taroh Kinoshita
Yoshiko Murakami
P2860
P2888
P304
P356
10.1038/EJHG.2015.42
P50
P577
2015-03-25T00:00:00Z
P6179
1046921230