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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SORT1

Variant:p.T271_Y272delFs

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SORT1

NM_002959.7:p.T271_Y272delFs

hg38:chr1:109347498 CATAG>C

Associated Papers

Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.

Zhou X et al.

Advances in Experimental Medicine and Biology, 2021

33433878 (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."