Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1L
Variant:p.Q91H
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DZIP1L

NM_173543.3:p.Q91H

Associated Papers

Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.

Salman MA et al.

Pediatric Nephrology (berlin, Germany), 2024

The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.

Chen H et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.

Hertz JM et al.

Pediatric Nephrology (berlin, Germany), 2022

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.

Cordido A et al.

International Journal of Molecular Sciences, 2021

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Lu H et al.

Nature Genetics, 2017

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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."