rs730880031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients.
|
26999347 |
2016 |
rs765672269
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients.
|
26999347 |
2016 |
rs80265967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Granular inclusions were also found in carriers of SOD1 mutations and in spinobulbar muscular atrophy (SBMA) patients and they were the major type of inclusion detected in ALS patients homozygous for the wild type-like D90A mutation.
|
20644736 |
2010 |
rs112374098
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852564
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852565
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.
|
25613104 |
2015 |
rs137852565
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.
|
2332504 |
1990 |
rs137852569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.
|
28261839 |
2017 |
rs137852569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
|
26778393 |
2015 |
rs137852569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
|
1598912 |
1992 |
rs137852573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The clinical and molecular spectrum of androgen insensitivity syndromes.
|
8723113 |
1996 |
rs137852573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.
|
17054461 |
2006 |
rs137852573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
rs137852573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.
|
11788616 |
2002 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
|
8824883 |
1996 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.
|
1430233 |
1992 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.
|
20011049 |
2009 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
|
8040309 |
1994 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.
|
9768671 |
1998 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.
|
11788673 |
2002 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dissecting phenotypic variation among AIS patients.
|
16083860 |
2005 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
|
15925895 |
2005 |
rs1386577803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
|
10458483 |
1999 |
rs1386577803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.
|
10834333 |
2000 |
rs1386577803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
|
2082179 |
1990 |