Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.P138S
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GAMT

NM_000156.6:p.P138S

Associated Papers

[Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].

Zhang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."