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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN5

Variant:p.S232P

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CLN5

NM_006493.4:p.S232P

hg38:chr13:77000586 T>C

Associated Papers

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.

Zhang Y et al.

Cns Neuroscience & Therapeutics, 2025

39925015 (PubMed )

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Haddad SE et al.

Electrophoresis, 2012

23160995 (PubMed )

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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."