Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS17
Variant:p.E491_H492Splc
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ADAMTS17

NM_139057.4:p.E491_H492Splc

Associated Papers

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed.

Tzouganakis I et al.

Veterinary Ophthalmology, 2022

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.

Villani NA et al.

Molecular Genetics and Metabolism, 2019

Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma.

Jeanes EC et al.

Canine Genetics and Epidemiology, 2019

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.

Donner J et al.

Plos One, 2016

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Shah MH et al.

Molecular Vision, 2014

ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.

Gould D et al.

Veterinary Ophthalmology, 2011

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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."