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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHB2

Variant:p.L153L

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PHB2

NM_001144831.2:p.L153L

hg38:chr12:6968429 C>A

Associated Papers

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Proukakis C et al.

Human Mutation, 2003

12552568 (PubMed )

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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."