Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.S28R
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PHOX2A

NM_005169.4:p.S28R

Associated Papers

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

Chen M et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023

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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."