Varaico: Literature-Extracted Genetic Variants

Gene:FREM1
Variant:p.E386A
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FREM1

NM_001379081.2:p.E386A

Associated Papers

Two novel mutations within FREM1 gene in patients with bifid nose.

Chen X et al.

Bmc Pediatrics, 2023

Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case.

Yang YD et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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."