Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.N1744H
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PKHD1

NM_138694.4:p.N1744H

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Henein M et al.

Nephron, 2024

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Kidney International, 2005

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