Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.Q97*
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GAMT

NM_000156.6:p.Q97*

Associated Papers

Creatine biosynthesis and transport in health and disease.

Joncquel-Chevalier Curt M et al.

Biochimie, 2015

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D et al.

Orphanet Journal of Rare Diseases, 2012

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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."