Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
|
28266639 |
2017 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Delineating the genetic heterogeneity of OCA in Hungarian patients.
|
28629449 |
2017 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
|
28451379 |
2017 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
|
19865097 |
2010 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
|
19060277 |
2009 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
|
19060277 |
2009 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
|
18326704 |
2008 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
|
18463683 |
2008 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
|
18326704 |
2008 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
|
18463683 |
2008 |
Albinism, Oculocutaneous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
Albinism, Oculocutaneous
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
|
9163730 |
1997 |