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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP3

Variant:p.L546F

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NPHP3

NM_153240.5:p.L546F

hg38:chr3:132700439 T>A

Associated Papers

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H et al.

Nature Genetics, 2009

19430481 (PubMed )

Supplement: NIHMS103218-supplement-2.doc

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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."