Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.C16*
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GAMT

NM_000156.6:p.C16*

Associated Papers

Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.

Afjei SA et al.

Neurogenetics, 2023

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.

Aydın Hİ et al.

The Turkish Journal of Pediatrics, 0

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