Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.G82R
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CLN6

NM_017882.3:p.G82R

Associated Papers

Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Ben Younes T et al.

Clinical Genetics, 2022

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

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Guelbert G et al.

Frontiers in Neurology, 2022

36034292 (PubMed )
Supplement: Table_1.XLSX › SA_C_cohort

[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations].

Bravo-Oro A et al.

Revista De Neurologia, 2021

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