Genetic Test References
Peer-reviewed papers identifying the original phene variant. Includes breed-specific references associated with genetic tests and variants.
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ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs.
First publication of phene/variants -
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A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia.
First published article on disease/variant -
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
First Publication associated with the genetic variant. -
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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.: Canine CNGB3 mutations establish cone... -
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).
2017 Meyers-Wallen, V.N., Boyko, A.R., Danko, C.G., Grenier, J.K., Mezey, J.G., Hayward, J.J., Shannon, L.M., Gao, C., Shafquat, A., Rice, E.J., Pujar, S., Eggers, S.,... -
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Furrow E, Pfeifer RJ, Osborne CA, Lulich JP, 2014 Mar; An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in... -
Morphological evaluation of clefts of the lip, palate, or both in dogs.
Peralta, S., Fiani, N., Kan-Rohrer, K.H., Verstraete, F.J.M. : Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res 78:926-933, 2017.... -
A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genet 10:e1004257
Wolf, Z.T., Leslie, E.J., Arzi, B., Jayashankar, K., Karmi, N., Jia, Z., Rowland, D.J., Young, A., Safra, N., Sliskovic, S., Murray, J.C., Wade, C.M., Bannasch, D.L. : A... -