Varaico: Literature-Extracted Genetic Variants

Gene:MFAP5
Variant:p.R114Q
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MFAP5

NM_003480.4:p.R114Q

Associated Papers

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Landis BJ et al.

Journal of Cardiovascular Translational Research, 2017

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

Schubert JA et al.

American Journal of Medical Genetics. Part A, 2016

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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."