Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.R134*
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EFEMP1

NM_001039348.3:p.R134*

Associated Papers

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Diverse modes of genomic alteration in hepatocellular carcinoma.

Jhunjhunwala S et al.

Genome Biology, 2014

25159915 (PubMed )
Supplement: 13059_2014_436_MOESM1_ESM.xlsx › Table_S2
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