Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.V130I
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CLN3

NM_001042432.2:p.V130I

Associated Papers

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Ge L et al.

Open Medicine (warsaw, Poland), 2024

39588385 (PubMed )
Supplement: med-2024-0916-sm2.xlsx › Additional_File_2

Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.

Gowda VK et al.

Journal of Pediatric Genetics, 2021

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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."