c.2394delC
c.2394delC · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| TRPM1 | HGNC:7146 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publicationsNo retained phenotype associations.
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2016Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePubMed ↗