Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
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
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q et al.
Frontiers in Pediatrics, 2023
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
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
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D et al.
Human Mutation, 2014
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