Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.A558Fs
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PNPLA6

NM_001166114.2:p.A558Fs

Associated Papers

Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.

Dong Y et al.

Neuroscience Letters, 2021

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1
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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."