Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.T755I
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EMC1

NM_015047.3:p.T755I

Associated Papers

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Le Van Quyen P et al.

American Journal of Medical Genetics. Part A, 2020

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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."