Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.E358insFs
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FN1

NM_212482.4:p.E358insFs

Associated Papers

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J et al.

Human Mutation, 2009

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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."