Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.R169Q
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GATM

NM_001482.3:p.R169Q

Associated Papers

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

Cheillan D et al.

Orphanet Journal of Rare Diseases, 2012

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

Caldeira Araújo H et al.

American Journal of Medical Genetics. Part A, 2005

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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."