Condition: Hepatic Fibrosis, Congenital
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.
rs140511594
in
TTC21B;TTC21B-AS1
gene and
Hepatic Fibrosis, Congenital
PMID 24876116
2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
PMID 26940125
2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.