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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SORT1

Variant:p.Y466C

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SORT1

NM_002959.7:p.Y466C

hg38:chr1:109327576 T>C

Associated Papers

SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports.

Qiu G et al.

Medicine, 2021

33879716 (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."