Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.A51A
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PHOX2A

NM_005169.4:p.A51A

Associated Papers

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

Khan AO et al.

Ophthalmic Genetics, 2009

Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.

Imai S et al.

Acta Medica Okayama, 2008

ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.

Jiang Y et al.

Acta Medica Okayama, 2005

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

Jiang Y et al.

The British Journal of Ophthalmology, 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."