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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SURF1

Variant:p.L171L

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SURF1

NM_003172.4:p.L171L

hg38:chr9:133353753 G>A

Associated Papers

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.

Gregersen N et al.

Journal of Inherited Metabolic Disease, 2001

11405340 (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."