Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.V215_T216insT
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EFTUD2

NM_004247.4:p.V215_T216insT

Associated Papers

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2024

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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."