Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.M433delFs
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EFTUD2

NM_004247.4:p.M433delFs

Associated Papers

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.

Ulhaq ZS et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.

Williams LA et al.

Journal of Genetic Counseling, 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."