Condition: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C


rs369484186 in LOC105370752;TRPM1 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C PMID 19878917 2009 Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

PMID 19896113 2009 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

PMID 19896109 2009 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

rs150441866 in TRPM1 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C PMID 20300565 2010 TRPM1 mutations are associated with the complete form of congenital stationary night blindness.

PMID 19896113 2009 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

PMID 19878917 2009 Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

PMID 19896109 2009 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

rs869312176 in TRPM1;MIR211 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.