Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.E677Q
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NPHP1

NM_000272.5:p.E677Q

Associated Papers

Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.

Nguyen TTT et al.

Frontiers in Pediatrics, 2025

41450889 (PubMed )
Supplement: Presentation1.pdf

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.

Qi Z et al.

Science China. Life Sciences, 2017

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