Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.W181Splc
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CLN6

NM_017882.3:p.W181Splc

Associated Papers

Molecular genetics of the NCLs -- status and perspectives.

Siintola E et al.

Biochimica Et Biophysica Acta, 2006

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE et al.

Neurogenetics, 2005

Current state of clinical and morphological features in human NCL.

Goebel HH et al.

Brain Pathology (zurich, Switzerland), 2004

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Steinfeld R et al.

American Journal of Medical Genetics, 2002

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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."