Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.P184delFs
Back to variants list

CLN6

NM_017882.3:p.P184delFs

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."