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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.K254Splc

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GBA1

NM_000157.4:p.K254Splc

hg38:chr1:155238133 C>T

Associated Papers

Genetics of neurodegenerative diseases: insights from high-throughput resequencing.

Tsuji S

Human Molecular Genetics, 2010

20413655 (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."