Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.S222*
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RAX

NM_013435.3:p.S222*

Associated Papers

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Chesneau B et al.

European Journal of Human Genetics : Ejhg, 2023

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

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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."