Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.R164Q
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ATP2A1

NM_004320.6:p.R164Q

Associated Papers

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

Manning LK et al.

Animals : an Open Access Journal From Mdpi, 2024

39765607 (PubMed )
Supplement: animals-14-03703-s001.zip › Supplementary_Tables_and_Figures.xlsx › Table_S4

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Caivio-Nasner S et al.

Tropical Animal Health and Production, 2021

KDM2B-associated paunch calf syndrome in Marchigiana cattle.

Murgiano L et al.

Journal of Veterinary Internal Medicine, 2020

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.

Jansen S et al.

Bmc Genomics, 2013

23826801 (PubMed )
Supplement: 1471-2164-14-446-S6.xls › Sheet1

Microarray gene expression profiling of neural tissues in bovine spastic paresis.

Pariset L et al.

Bmc Veterinary Research, 2013

Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires.

Murgiano L et al.

Veterinary Journal (london, England : 1997), 2013

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations.

Murgiano L et al.

Bmc Veterinary Research, 2012

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

Drögemüller C et al.

Genomics, 2008

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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."