Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.T136R
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GAMT

NM_000156.6:p.T136R

Associated Papers

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Al Khudari R et al.

Orphanet Journal of Rare Diseases, 2025

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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."