Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.L162_I163Splc
Back to variants list

CLN6

NM_017882.3:p.L162_I163Splc

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

[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].

Lou T et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2019

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."