×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
GeneticVariation
disease
BEFREE
Recently, several mutations in the mitochondrial protease CLPP have been identified in patients with Perrault syndrome 3 (PRLTS3 ).
30150665
2018
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Expanding the genotypic spectrum of Perrault syndrome.
26970254
2017
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Genetic diagnosis of Mendelian disorders via RNA sequencing.
28604674
2017
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
27899912
2016
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
27087618
2016
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
27650058
2016
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
GeneticVariation
disease
UNIPROT
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
25956234
2015
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
25956234
2015
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
CausalMutation
disease
CLINVAR
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
23541340
2013
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.
23851121
2013
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CLINGEN
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
23541340
2013
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
MGD
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.
23851121
2013
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
GeneticVariation
disease
UNIPROT
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
23541340
2013
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
GENOMICS_ENGLAND
Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene.
8543061
1995
×
Entrez Id:
8192
Gene Symbol:
CLPP
CLPP
0.910
Biomarker
disease
CTD_human