Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.G43Splc
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EGF

NM_001963.6:p.G43Splc

Associated Papers

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.

Rommel K et al.

Human Mutation, 2002

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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."