Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

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http://www.wikidata.org/entity/Q50425748
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsThe clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids
P2860

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

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http://www.wikidata.org/entity/Q50425748
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2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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Exome sequencing extends the p ...... yndromic retinal degeneration.
@en
Exome sequencing extends the p ...... yndromic retinal degeneration.
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type
label
Exome sequencing extends the p ...... yndromic retinal degeneration.
@en
Exome sequencing extends the p ...... yndromic retinal degeneration.
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prefLabel
Exome sequencing extends the p ...... yndromic retinal degeneration.
@en
Exome sequencing extends the p ...... yndromic retinal degeneration.
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P1433
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Exome sequencing extends the p ...... yndromic retinal degeneration.
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P2093
P304
P31
P356
10.1016/J.OPHTHA.2014.02.008
P433
P478
P50
P577
P5875
P698