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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.N1000_Q1002delFs

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NPHP4

NM_015102.5:p.N1000_Q1002delFs

hg38:chr1:5874912 CTGTGTGT>C

Associated Papers

Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.

Miri Karam Z et al.

Journal of Clinical Laboratory Analysis, 2024

38895833 (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."