Publications:

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

American Journal Of Human Genetics

Davidson, Alice E AE; Liskova, Petra P; Evans, Cerys J CJ; Dudakova, Lubica L; Nosková, Lenka L; Pontikos, Nikolas N; Hartmannová, Hana H; Hodaňová, Kateřina K; Stránecký, Viktor V; Kozmík, Zbyněk Z; Levis, Hannah J HJ; Idigo, Nwamaka N; Sasai, Noriaki N; Maher, Geoffrey J GJ; Bellingham, James J; Veli, Neyme N; Ebenezer, Neil D ND; Cheetham, Michael E ME; Daniels, Julie T JT; Thaung, Caroline M H CM; Jirsova, Katerina K; Plagnol, Vincent V; Filipec, Martin M; Kmoch, Stanislav S; Tuft, Stephen J SJ; Hardcastle, Alison J AJ

Publication Date: 2016-01-07

Variant appearance in text: SLC24A3: 1540A>C; Ile514Leu

PubMed Link: 26749309

Variant Present in the following documents:

• Main text

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