Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.A72V
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PHOX2A

NM_005169.4:p.A72V

Associated Papers

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2.

Khan AO et al.

Ophthalmic Genetics, 2016

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

Bosley TM et al.

Brain : a Journal of Neurology, 2006

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy.

Jiang Y et al.

The British Journal of Ophthalmology, 2004

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Nakano M et al.

Nature Genetics, 2001

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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."