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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A7

Variant:p.A367insFs

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SLC6A7

NM_014228.5:p.A367insFs

hg38:chr5:150203678 G>GC

Associated Papers

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.

Erlandsen H et al.

Journal of Inherited Metabolic Disease, 2001

11405341 (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."