Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1045insFs
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RPGR

NM_001034853.2:p.E1045insFs

Associated Papers

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K et al.

European Journal of Human Genetics : Ejhg, 2002

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM et al.

Nature Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."