Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.K620_V621Splc
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EFTUD2

NM_004247.4:p.K620_V621Splc

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

36317361 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221136177.xlsx › Supp._Table_2

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.

Kim SY et al.

Diagnostics (basel, Switzerland), 2020

32408545 (PubMed )
Supplement: diagnostics-10-00296-s001.xlsx › Sheet1__3_
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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."