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weber congenital amaurosis 18
- ... J Neurosci. 2004 Feb 18;24(7):1707-18. doi: 10.1523/JNEUROSCI.4846-03.2004. Citation on PubMed Peloquin JB, Rehak R, Doering CJ, McRory JE. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. ...