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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.F138fs

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GCH1

NM_000161.3:p.F138fs

hg38:chr14:54865366 A>AN

Associated Papers

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Leuzzi V et al.

Jimd Reports, 2013

23430498 (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."