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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAST

Variant:p.T389K

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SPAST

NM_014946.4:p.T389K

hg38:chr2:32127015 C>A

Associated Papers

Identification of novel variations in three cases with rare inherited neuromuscular disorder.

Chen WQ et al.

Experimental and Therapeutic Medicine, 2024

38756899 (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."