Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.R134C
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GPT2

NM_133443.4:p.R134C

Associated Papers

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Hengel H et al.

Clinical Genetics, 2018

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Kaymakcalan H et al.

American Journal of Medical Genetics. Part A, 2018

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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."