Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.F130C
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EMD

NM_000117.3:p.F130C

Associated Papers

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG et al.

European Journal of Human Genetics : Ejhg, 1999

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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."