Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.R265C
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AMT

NM_000481.4:p.R265C

Associated Papers

Natural history and outcome of nonketotic hyperglycinemia in China.

Zhou Z et al.

Frontiers in Neurology, 2024

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.

Lin Y et al.

Bmc Medical Genetics, 2019

A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

Belcastro V et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

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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."