Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.G221insFs
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CLN5

NM_006493.4:p.G221insFs

Associated Papers

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Basak I et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

Katz ML et al.

Neurobiology of Disease, 2017

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-S7.pdf

A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Ibeagha-Awemu EM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

Houweling PJ et al.

Biochimica Et Biophysica Acta, 2006

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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."