Varaico: Literature-Extracted Genetic Variants

Gene:GRHL2
Variant:p.R537fs
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GRHL2

NM_024915.4:p.R537fs

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

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."