Varaico: Literature-Extracted Genetic Variants

Gene:GRHL3
Variant:p.R391C
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GRHL3

NM_198173.3:p.R391C

Associated Papers

Genetic Landscape of Robin Sequence: A Systematic Review.

van de Velde S et al.

Clinical Genetics, 2026

41077824 (PubMed )
Supplement: CGE-109-218-s001.pdf

Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only.

Huang W et al.

Oral Diseases, 2023

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

Velázquez-Aragón JA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2021

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

Basha M et al.

Journal of Medical Genetics, 2018

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

Eshete MA et al.

Journal of Dental Research, 2018

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Lemay P et al.

Human Mutation, 2017

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Leslie EJ et al.

American Journal of Human Genetics, 2016

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Peyrard-Janvid M et al.

American Journal of Human Genetics, 2014

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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."