Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.H208delFs
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EFTUD2

NM_004247.4:p.H208delFs

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

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

Wang Y et al.

Genes, 2023

[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

Li X et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2022

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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."