Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A88D
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PLP1

NM_000533.5:p.A88D

Associated Papers

Construction of 5-aminolevulinic acid synthase variants by cysteine-targeted mutation to release heme inhibition.

He G et al.

Journal of Bioscience and Bioengineering, 2022

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R et al.

Orphanet Journal of Rare Diseases, 2022

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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."