Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.T307_E308delFs
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WRN

NM_000553.6:p.T307_E308delFs

Associated Papers

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

Campos JTAM et al.

Genetics and Molecular Biology, 2022

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.

Wang LR et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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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."