Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.S552P
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ARHGAP29

NM_004815.4:p.S552P

Associated Papers

The role of Rho GTPases in facial morphogenesis.

Ibrahim I et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2026

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

Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.

Li MJ et al.

Frontiers in Genetics, 2022

Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Machado RA et al.

Frontiers in Cell and Developmental Biology, 2021

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

Zebrafish models of orofacial clefts.

Duncan KM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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."