Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.V443delFs
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SPAST

NM_014946.4:p.V443delFs

Associated Papers

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

Cacheiro P et al.

Molecular Diagnosis & Therapy, 2017

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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."