Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.R119R
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AICDA

NM_020661.4:p.R119R

Associated Papers

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Bjursell C et al.

Human Mutation, 2000

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W et al.

Human Mutation, 2000

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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."