Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.Q436E
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EFTUD2

NM_004247.4:p.Q436E

Associated Papers

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Thomas HB et al.

Human Mutation, 2020

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L et al.

Human Mutation, 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."