Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.H251Y
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AMPD2

NM_001368809.2:p.H251Y

Associated Papers

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F et al.

European Journal of Human Genetics : Ejhg, 2018

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A et al.

Neurology. Genetics, 2017

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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."