Condition: NEPHRONOPHTHISIS 3
rs202048210
in
NPHP3-ACAD11;NPHP3
gene and
NEPHRONOPHTHISIS 3
PMID 12872122
2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
rs771742823
in
NPHP3-AS1;NPHP3;NPHP3-ACAD11
gene and
NEPHRONOPHTHISIS 3
PMID 28921755
2017 Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
rs142021049
in
NPHP3;NPHP3-ACAD11
gene and
NEPHRONOPHTHISIS 3
PMID 12872122
2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.