Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.M1I
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GPT

NM_005309.3:p.M1I

Associated Papers

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Platt I et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.

Bibbò F et al.

Frontiers in Oncology, 2021

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.

Lodewijk GA et al.

Molecular Biology and Evolution, 2020

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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."