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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP1

Variant:p.T374_I375Splc

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NPHP1

NM_000272.5:p.T374_I375Splc

hg38:chr2:110161602 C>A

Associated Papers

A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.

Liu Y et al.

Transplant Immunology, 2023

36948406 (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."