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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDPS

Variant:p.S334R

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FDPS

NM_002004.4:p.S334R

hg38:chr1:155319871 C>G

Associated Papers

High-throughput structural biology of metabolic enzymes and its impact on human diseases.

Yue WW et al.

Journal of Inherited Metabolic Disease, 2011

21340633 (PubMed )

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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."