Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K393fs
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OFD1

NM_003611.3:p.K393fs

Associated Papers

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Alby C et al.

Birth Defects Research, 2018

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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."