Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A84D
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PLP1

NM_000533.5:p.A84D

Associated Papers

Ocular findings and genomics of X-linked recessive disorders: A review.

Hassan A et al.

Indian Journal of Ophthalmology, 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

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J et al.

Bmc Pediatrics, 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."