Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.R256L
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DNM1

NM_004408.4:p.R256L

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

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

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

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

The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.

Arlt H et al.

The Journal of Biological Chemistry, 2023

Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.

Moustaq L et al.

Microbial Cell (graz, Austria), 2016

Genotyping of exercise-induced collapse in Labrador retrievers using an allele-specific PCR.

Takanosu M et al.

Veterinary Journal (london, England : 1997), 2012

A canine BCAN microdeletion associated with episodic falling syndrome.

Gill JL et al.

Neurobiology of Disease, 2012

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS et al.

Plos Genetics, 2012

Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds.

Minor KM et al.

Veterinary Journal (london, England : 1997), 2011

A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse.

Patterson EE et al.

Nature Genetics, 2008

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 0

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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."