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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMPD2

Variant:p.C53fs

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AMPD2

NM_001368809.2:p.C53fs

hg38:chr1:109625368 T>TN

Associated Papers

Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.

Gilboa T et al.

Neurogenetics, 2023

36445597 (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."