Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.R239G
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ATL1

NM_015915.5:p.R239G

Associated Papers

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S1

A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.

Wang X et al.

Chinese Medical Journal, 2014

A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.

Li XH et al.

Chinese Medical Journal, 2007

[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance].

Ming L

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

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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."