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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPB

Variant:p.R298H

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GMPPB

NM_021971.4:p.R298H

hg38:chr3:49722023 C>T

Associated Papers

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.

Mezreani J et al.

Npj Genomic Medicine, 2022

35672413 (PubMed )

Supplement: 41525_2022_307_MOESM1_ESM.pdf

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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."