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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

Variant:p.T143_W144del1

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GAMT

NM_000156.6:p.T143_W144del1

hg38:chr19:1399156 CAGG>C

Associated Papers

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM et al.

Journal of Inherited Metabolic Disease, 2012

21556832 (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."