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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.Y223C

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SPG11

NM_025137.4:p.Y223C

hg38:chr15:44657296 T>C

Associated Papers

[Metachromatic leukdystrophy (Sulfatidosis) and mucopolysaccharidosis associated in the same patient].

Thieffry S et al.

Revue Neurologique, 1966

4223792 (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."