rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
WISP3 mutation associated with pseudorheumatoid dysplasia.
|
29092958 |
2018 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
|
27436824 |
2016 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia.
|
25794430 |
2015 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.
|
25738435 |
2015 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in WISP3 and an atypical phenotype.
|
25988854 |
2015 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
|
22987568 |
2012 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
|
22685593 |
2012 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.
|
19064006 |
2009 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We found that two probands carried a deletion (840delT) mutation in maternal allele, which leads to truncated WISP3 protein missing 43 residues in C terminus; and a 1000T>C substitution in paternal allele, which was also passed on to four other members in the PPD kindred.
|
17483925 |
2007 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
|
16152649 |
2005 |
rs121908903
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
|
10471507 |
1999 |
rs121908903
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|