A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

Item
http://www.wikidata.org/entity/Q35608563
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeComprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.A profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa.Defining the gene repertoire and spatiotemporal expression profiles of adhesion G protein-coupled receptors in zebrafish.Current understanding of usher syndrome type II.The very large G protein coupled receptor (Vlgr1) in hair cells.Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.ADGRV1 is implicated in myoclonic epilepsy.Audiological findings in 100 USH2 patients.A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.
P2860

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

Item
http://www.wikidata.org/entity/Q35608563
description
2009 nî lūn-bûn
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年论文
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2009年论文
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2009年论文
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name
A large deletion in GPR98 caus ...... members of an Iranian family.
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A large deletion in GPR98 caus ...... members of an Iranian family.
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type
label
A large deletion in GPR98 caus ...... members of an Iranian family.
@ast
A large deletion in GPR98 caus ...... members of an Iranian family.
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prefLabel
A large deletion in GPR98 caus ...... members of an Iranian family.
@ast
A large deletion in GPR98 caus ...... members of an Iranian family.
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P1476
P2093
P2860
P304
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P356
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P50
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P1476
A large deletion in GPR98 caus ...... e members of an Iranian family
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932