A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Abstract
:1. Introduction
2. Case Description
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Mahmood, U.; Méjécase, C.; Ali, S.M.A.; Moosajee, M.; Kozak, I. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes 2021, 12, 171. https://doi.org/10.3390/genes12020171
Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes. 2021; 12(2):171. https://doi.org/10.3390/genes12020171
Chicago/Turabian StyleMahmood, Usman, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, and Igor Kozak. 2021. "A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness" Genes 12, no. 2: 171. https://doi.org/10.3390/genes12020171
APA StyleMahmood, U., Méjécase, C., Ali, S. M. A., Moosajee, M., & Kozak, I. (2021). A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes, 12(2), 171. https://doi.org/10.3390/genes12020171