Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.I38T
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RAX

NM_013435.3:p.I38T

Associated Papers

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

Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.

Huang XF et al.

Scientific Reports, 2017

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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."