Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.C109R
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PLP1

NM_000533.5:p.C109R

Associated Papers

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

Voskoboeva E et al.

Molecular Genetics and Metabolism Reports, 2018

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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."