Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.Q23_V24Splc
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NPHP1

NM_001128178.3:p.Q23_V24Splc

Associated Papers

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Garcia H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35482924 (PubMed )
Supplement: pnas.2115960119.sapp.pdf
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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."