Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.R647*
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ARHGAP29

NM_004815.4:p.R647*

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

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

Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Marzouka NA et al.

Scientific Reports, 2020

33177554 (PubMed )
Supplement: 41598_2020_75854_MOESM1_ESM.xlsx › P5

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.

Tang JX et al.

Biomed Research International, 2020

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Savastano CP et al.

Clinical Genetics, 2017

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ et al.

American Journal of Human Genetics, 2015

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