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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN5

Variant:p.G121insFs

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CLN5

NM_006493.4:p.G121insFs

hg38:chr13:76995922 T>TG

Associated Papers

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis.

Rietmann SJ et al.

Animal Genetics, 2024

39434657 (PubMed )

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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."