Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.N5557K
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SYNE1

NM_182961.4:p.N5557K

Associated Papers

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Karthikeyan P et al.

Molecular Genetics & Genomic Medicine, 2024

Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Tang J et al.

Theranostics, 2020

32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations
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