Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.I482K
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GRHL2

NM_024915.4:p.I482K

Associated Papers

Characterization of a novel GRHL2 mutation reveals molecular mechanisms underlying autosomal dominant hearing loss (DFNA28): insights from structural and functional studies.

Oziębło D et al.

Human Molecular Genetics, 2025

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

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

[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."