Varaico: Literature-Extracted Genetic Variants

Gene:AGER
Variant:p.S129F
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AGER

NM_001136.5:p.S129F

Associated Papers

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

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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."