Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Brachet C et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
RAX and anophthalmia in humans: evidence of brain anomalies.
Abouzeid H et al.
Molecular Vision, 2012
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J et al.
The British Journal of Ophthalmology, 2010
Confirmation of RAX gene involvement in human anophthalmia.
Lequeux L et al.
Clinical Genetics, 2008
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