Varaico: Literature-Extracted Genetic Variants

Gene:MRFAP1
Variant:p.E21*
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MRFAP1

NM_033296.3:p.E21*

Associated Papers

A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.

Xia XY et al.

Genetics and Molecular Research : Gmr, 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."