rs104893941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
|
25114083 |
2015 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
|
25241215 |
2015 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
|
23942205 |
2014 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
rs104893941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
rs104893941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
|
23417734 |
2013 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
|
21195346 |
2011 |
rs104893941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
|
22084127 |
2011 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.
|
21515589 |
2011 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
|
19589897 |
2009 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.
|
18765443 |
2008 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.
|
15493999 |
2004 |
rs104893941
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
|
11992264 |
2002 |
rs104893941
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs143511494
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
|
25114083 |
2015 |
rs143511494
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
rs143511494
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
rs143511494
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
|
22084127 |
2011 |
rs757212984
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs770118706
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|