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.