Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.G131Splc
Back to variants list

GAMT

NM_000156.6:p.G131Splc

Associated Papers

Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.

Sun W et al.

Translational Pediatrics, 2023

[Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2].

Sun W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

A Japanese adult case of guanidinoacetate methyltransferase deficiency.

Akiyama T et al.

Jimd Reports, 2014

[Advances in studies on cerebral creatine deficiency syndrome].

Sun WH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."