Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.D44E
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RAX

NM_013435.3:p.D44E

Associated Papers

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

Vidya NG et al.

Ophthalmic Genetics, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X et al.

Molecular Vision, 2009

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

Voronina VA et al.

Human Molecular Genetics, 2004

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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."