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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG21

Variant:p.R40fs

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SPG21

NM_016630.7:p.R40fs

hg38:chr15:64980971 TCG>N

Associated Papers

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome.

Xue YY et al.

Cns Neuroscience & Therapeutics, 2021

34492745 (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."