Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.S188P
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CLN5

NM_006493.4:p.S188P

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient.

de Rojas-P I et al.

Orphanet Journal of Rare Diseases, 2020

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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."