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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PICK1

Variant:p.R247H

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PICK1

NM_012407.4:p.R247H

hg38:chr22:38073049 G>A

Associated Papers

Coding variants identified in patients with diabetes alter PICK1 BAR domain function in insulin granule biogenesis.

Andersen RC et al.

The Journal of Clinical Investigation, 2022

35077398 (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."