Varaico: Literature-Extracted Genetic Variants

Gene:ANKS6
Variant:p.G303Splc
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ANKS6

NM_173551.5:p.G303Splc

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

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Almohlesy LS et al.

Genes, 2024

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Vaseghi P et al.

European Journal of Human Genetics : Ejhg, 2024

The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.

Vaseghi H et al.

Journal of Clinical Laboratory Analysis, 2023

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Taskiran EZ et al.

Journal of the American Society of Nephrology : Jasn, 2014

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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."