Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.A2S
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PRPF3

NM_004698.4:p.A2S

Associated Papers

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Pomares E et al.

European Journal of Human Genetics : Ejhg, 2010

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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."