Varaico: Literature-Extracted Genetic Variants

Gene:PRDX5
Variant:p.G73R
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PRDX5

NM_012094.5:p.G73R

Associated Papers

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

Cailloux F et al.

European Journal of Human Genetics : Ejhg, 2000

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Mimault C et al.

American Journal of Human Genetics, 1999

Genetics of Pelizaeus-Merzbacher disease.

Hodes ME et al.

Developmental Neuroscience, 1993

Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

Doll R et al.

American Journal of Human Genetics, 1992

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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."