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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLCCI1

Variant:p.A33A

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GLCCI1

NM_138426.4:p.A33A

hg38:chr7:7969449 C>A

Associated Papers

A novel loss-of-function mutation of PBK associated with human kidney stone disease.

Nettuwakul C et al.

Scientific Reports, 2020

32581305 (PubMed )

Supplement: 41598_2020_66936_MOESM1_ESM.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."