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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP3

Variant:p.S1271fs

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NPHP3

NM_153240.5:p.S1271fs

hg38:chr3:132682704 CT>N

Associated Papers

Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.

Zhang X et al.

Nephron, 2023

36878198 (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."

Varaico: Literature-Extracted Genetic Variants

Associated Papers

Identification of a Splicing Variant c.3813-3A&gt;G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.

Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.