Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V277fs
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CLN6

NM_017882.3:p.V277fs

Associated Papers

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Santos BV et al.

Neuropediatrics, 2024

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2023

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Rus CM et al.

Orphanet Journal of Rare Diseases, 2022

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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."