Associated Papers
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Awotoye W et al.
Scientific Reports, 2022
35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Marti-Masso JF et al.
Human Genetics, 2012
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