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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP3

Variant:p.Q138_I140delFs

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NPHP3

NM_153240.5:p.Q138_I140delFs

hg38:chr3:132719805 ATCTTC>A

Associated Papers

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.

Peng D et al.

Medicine, 2019

31577731 (PubMed )

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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."