Varaico: Literature-Extracted Genetic Variants

Gene:DZIP1L
Variant:p.E354delFs
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DZIP1L

NM_173543.3:p.E354delFs

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

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

Hertz JM et al.

Pediatric Nephrology (berlin, Germany), 2022

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."