Variant: rs76216585 

    present in Gene: POC1B
    present in Chromosome: 12
    Position on Chromosome: 89492071
    Alleles of this Variant: C/A;G;T

rs76216585 in POC1B gene and CONE-ROD DYSTROPHY 20 PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

rs76216585 in POC1B gene and Congenital heart disease PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs76216585 in POC1B gene and Hepatic Fibrosis, Congenital PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs76216585 in POC1B gene and Microcephaly (physical finding) PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

rs76216585 in POC1B gene and Retinal Dystrophies PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.