Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP2
Variant:p.D29fs
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EFEMP2

NM_016938.5:p.D29fs

Associated Papers

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Letard P et al.

Molecular Syndromology, 2018

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Sawyer SL et al.

American Journal of Medical Genetics. Part A, 2013

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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."