Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.K46R
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ARHGAP29

NM_004815.4:p.K46R

Associated Papers

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

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

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

Chandrasekharan D et al.

European Journal of Dentistry, 2014

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

Leslie EJ et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

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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."