Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.R798Q
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ARHGAP29

NM_004815.4:p.R798Q

Associated Papers

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f4.xlsx › Table_S4

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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

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

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Liu H et al.

Birth Defects Research, 2017

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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."