Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.P170fs
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REEP1

NM_001371279.1:p.P170fs

Associated Papers

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS et al.

Clinical Genetics, 2011

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C et al.

Brain : a Journal of Neurology, 2008

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Züchner S et al.

American Journal of Human Genetics, 2006

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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."