Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.I45L
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NPHP1

NM_001128178.3:p.I45L

Associated Papers

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Kousi M et al.

Nature Genetics, 2020

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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."