Varaico: Literature-Extracted Genetic Variants

Gene:SUN1
Variant:p.A203V
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SUN1

NM_001130965.3:p.A203V

Associated Papers

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S3_HCC-3_coding_SNVs

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

Meinke P et al.

Plos Genetics, 2014

Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies.

Li P et al.

Human Mutation, 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."