Varaico: Literature-Extracted Genetic Variants

Gene:FREM1
Variant:p.V876delFs
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FREM1

NM_001379081.2:p.V876delFs

Associated Papers

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF et al.

European Journal of Medical Genetics, 2017

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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."