Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.E640_C641Splc
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ARHGAP29

NM_004815.4:p.E640_C641Splc

Associated Papers

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

Ranji P et al.

European Journal of Human Genetics : Ejhg, 2025

Exome sequencing improves genetic diagnosis of congenital orofacial clefts.

Yan S et al.

Frontiers in Genetics, 2023

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.

Yu Q et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022

Orofacial clefts embryology, classification, epidemiology, and genetics.

Nasreddine G et al.

Mutation Research. Reviews in Mutation Research, 0

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