Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.R674C
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NPHP4

NM_015102.5:p.R674C

Associated Papers

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.

Huang H et al.

Oncotarget, 2017

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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."