Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.E346*
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NPHP3

NM_153240.5:p.E346*

Associated Papers

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Stone EM et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2011

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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."