Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.I209M
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KCNJ10

NM_002241.5:p.I209M

Associated Papers

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

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.

Zhang H et al.

Frontiers in Genetics, 2019

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Mauri N et al.

G3 (bethesda, Md.), 2017

The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.

Van Poucke M et al.

European Journal of Human Genetics : Ejhg, 2017

A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

Gilliam D et al.

Journal of Veterinary Internal Medicine, 0

Phenotypic and genetic aspects of hereditary ataxia in dogs.

Stee K et al.

Journal of Veterinary Internal Medicine, 0

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

Vanhaesebrouck A et al.

Journal of Veterinary Internal Medicine, 0

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