Varaico: Literature-Extracted Genetic Variants

Gene:MFAP5
Variant:p.R153S
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MFAP5

NM_003480.4:p.R153S

Associated Papers

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Barbier M et al.

American Journal of Human Genetics, 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."