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Article

Detection of the NPHP4 c.2999_3005del (p.Asn1000SerfsTer4) variant in an Iranian family with nephronophthisis‐4

28 Jul 2026

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Share to Genetic and Kidney Cyst Diseases
Share to Mitochondrial Function and Pathology
Share to Renal Diseases and Glomerulopathies

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 42517941
DOI: 10.1007/s00438-026-02494-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Detection of the NPHP4 c.2999_3005del (p.Asn1000SerfsTer4) variant in an Iranian family with nephronophthisis‐4PMID 42517941Read ↗

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Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile NephronophthisisSemantic proximity Read ↗

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