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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP5B1

Variant:p.S554_N558delFs

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AP5B1

NM_138368.5:p.S554_N558delFs

hg38:chr11:65778820 TTGAGGGTAGCA>T

Associated Papers

[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].

Maruta K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

32641631 (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."