Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling

Author:

Sallah Shalaw R.ORCID,Sergouniotis Panagiotis I.,Hardcastle Claire,Ramsden Simon,Lotery Andrew J.,Lench Nick,Lovell Simon C.,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference47 articles.

1. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F;Boycott;Can J Ophthalmol,2000

2. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA;Men;Mol Vis,2017

3. Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms;Zeitz;Prog Retin Eye Res,2015

4. L-type Ca2+ channels in Ca2+ channelopathies;Striessnig;Biochem Biophys Res Commun,2004

5. A global reference for human genetic variation;1000 Genomes Project Consortium;Nature,2015

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