Varaico: Literature-Extracted Genetic Variants

Gene:PIGN
Variant:p.T133I
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PIGN

NM_176787.5:p.T133I

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

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

Tian M et al.

Bmc Pediatrics, 2022

Phenotypic characterization of PIGN-associated paroxysmal dyskinesia in Soft-coated wheaten terriers and preliminary response to acetazolamide therapy.

Packer RA et al.

Veterinary Journal (london, England : 1997), 2021

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.

Kolicheski AL et al.

Neurogenetics, 2017

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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."