Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.Y398H
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GRHL2

NM_024915.4:p.Y398H

Associated Papers

A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.

Ma Y et al.

Acta Oto-laryngologica, 2026

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Curtis SW et al.

Human Molecular Genetics, 2025

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.

Trebusak Podkrajsek K et al.

Genes, 2021

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-5_Final_021921.xlsx › Table_S3.5

Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family.

Ming Q et al.

Nucleic Acids Research, 2018

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ et al.

Haematologica, 2016

Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development.

Menke C et al.

Genesis (new York, N.y. : 2000), 2015

[Palmoplantar keratoderma syndromes: new findings].

Dereure O

Annales De Dermatologie Et De Venereologie, 2015

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Petrof G 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."