Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.P354R
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FAH

NM_000137.4:p.P354R

Associated Papers

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Scalet D et al.

Journal of Human Genetics, 2018

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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."