Varaico: Literature-Extracted Genetic Variants

Gene:MFHAS1
Variant:p.L186M
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MFHAS1

NM_004225.3:p.L186M

Associated Papers

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

de Bruin C et al.

Hormone Research in Paediatrics, 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."