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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.R235_T240del6

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GCH1

NM_000161.3:p.R235_T240del6

hg38:chr14:54844044 TTCCCGAGTCTTTGGATCC>T

Associated Papers

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

Jung-Klawitter S et al.

Stem Cell Research, 2017

28395739 (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."