Varaico: Literature-Extracted Genetic Variants

Gene:ANKS6
Variant:p.D313N
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ANKS6

NM_173551.5:p.D313N

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Yates CL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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."