Varaico: Literature-Extracted Genetic Variants

Gene:ZEB1
Variant:p.Q451*
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ZEB1

NM_001174096.2:p.Q451*

Associated Papers

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Dudakova L et al.

Genes, 2021

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Lechner J et al.

Investigative Ophthalmology & Visual Science, 2013

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

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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."