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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMPD2

Variant:p.A413delFs

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AMPD2

NM_001368809.2:p.A413delFs

hg38:chr1:109628239 GC>G

Associated Papers

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Cavusoglu D et al.

Cerebellum (london, England), 2024

38622473 (PubMed )

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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."