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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.P6Q

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GAA

NM_000152.5:p.P6Q

hg38:chr17:80104603 C>A

Associated Papers

Variable Assembly of EMRE and MCU Creates Functional Channels with Distinct Gatekeeping Profiles.

Payne R et al.

Iscience, 2020

32315830 (PubMed )

Supplement: mmc1.pdf

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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."