×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
27607234 2017
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
A unique chromosomal in-frame deletion identified among seven XP-C patients.
27387384 2016
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
26884178 2016
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
25256075 2015
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
25566891 2015
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
26278556 2015
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
24218596 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
23278166 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
23984341 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
23173980 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
23173980 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
24218596 2013
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
21482201 2011
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
20054342 2010
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Founder mutations in xeroderma pigmentosum.
20463673 2010
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
19478817 2009
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
18955168 2009
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.
19609301 2009
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Skin cancers, blindness, and anterior tongue mass in African brothers.
19119101 2008
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Xeroderma pigmentosum group C in an isolated region of Guatemala.
16990803 2007
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
17079196 2007
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
CausalMutation
CLINVAR
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
16081512 2006
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
GeneticVariation
CLINVAR
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
16081512 2006