rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
|
26510092 |
2016 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
|
26502825 |
2015 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
|
26096614 |
2015 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
|
26007199 |
2015 |
rs121912801
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
rs121912801
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
|
26502825 |
2015 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
|
22521272 |
2012 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
|
22641783 |
2012 |
rs121912801
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
|
22094069 |
2012 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
|
19697366 |
2010 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
|
12661046 |
2003 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
|
10644771 |
2000 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
"A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene."
|
11113225 |
2000 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
|
10215406 |
1998 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
|
9736777 |
1998 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
|
9566422 |
1998 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel muscle chloride channel mutations and their effects on heterozygous carriers.
|
8571958 |
1996 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|
8533761 |
1995 |
rs121912801
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|
8533761 |
1995 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
|
8845168 |
1995 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
|
7981681 |
1994 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
|
7951242 |
1994 |
rs121912801
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
|
7951242 |
1994 |
rs121912801
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
|
7874130 |
1994 |