Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6IP
Variant:p.R715insFs
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PDCD6IP

NM_013374.6:p.R715insFs

Associated Papers

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5.

Mcleay L et al.

Genes, 2025

41300820 (PubMed )
Supplement: genes-16-01369-s001.zip › Supplementary_Table_S1._Unique_High_and_Moderate_Variants.xlsx › unique_vars

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs.

Shelton GD et al.

Animals : an Open Access Journal From Mdpi, 2024

38473107 (PubMed )
Supplement: animals-14-00722-s001.zip › animals-2817818-supplementary › Table_S1_-_Case_1___Case_3.xlsx › Case_3

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Shelton GD et al.

Genes, 2023

37628610 (PubMed )
Supplement: genes-14-01557-s001.zip › Table_S1._List_of_the_unique_coding_variants_of_each_dog.xlsx › Brittany_case_1
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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."