Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0432-3.pdf
Reference37 articles.
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4. Gilliam D, O’Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, et al. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med. 2014;28:871–7.
5. Van Poucke M, Stee K, Bhatti SF, Vanhaesebrouck A, Bosseler L, Peelman LJ, et al. The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet. 2017;25:222–6.
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