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Article

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

14 May 2020

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32413282
DOI: 10.1016/j.ajhg.2020.04.011

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal MyopathyPMID 32413282Read ↗

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.Semantic proximity Read ↗

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4Semantic proximity Read ↗

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathySemantic proximity Read ↗

Oculopharyngodistal myopathy.Semantic proximity Read ↗

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.Semantic proximity Read ↗

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.Semantic proximity Read ↗

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophySemantic proximity Read ↗

Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.Semantic proximity Read ↗

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Semantic proximity Read ↗

Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.Semantic proximity Read ↗

A CCG expansion in<i>ABCD3</i>causes oculopharyngodistal myopathy in individuals of European ancestrySemantic proximity Read ↗

A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathySemantic proximity Read ↗

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