Condition: NEPHRONOPHTHISIS 12


rs146320075 in TTC21B gene and NEPHRONOPHTHISIS 12 PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

rs140511594 in TTC21B;TTC21B-AS1 gene and NEPHRONOPHTHISIS 12 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.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.