Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.P13delFs
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PHB2

NM_001144831.2:p.P13delFs

Associated Papers

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.

Ortega-Cubero S et al.

Neurobiology of Aging, 2013

Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

Eksandh L et al.

Acta Ophthalmologica Scandinavica, 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."