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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPB

Variant:p.Q238H

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GMPPB

NM_021971.4:p.Q238H

hg38:chr3:49722285 C>A

Associated Papers

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 2020

32056211 (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."