Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.K241delFs
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SPRTN

NM_032018.7:p.K241delFs

Associated Papers

Mechanisms and Regulation of DNA-Protein Crosslink Repair During DNA Replication by SPRTN Protease.

Perry M et al.

Frontiers in Molecular Biosciences, 2022

DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.

Campos JTAM et al.

Genetics and Molecular Biology, 2022

Mutations Involved in Premature-Ageing Syndromes.

Coppedè F

The Application of Clinical Genetics, 2021

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D et al.

Nature Genetics, 2014

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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."