Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.R198T
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GBE1

NM_000158.4:p.R198T

Associated Papers

IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis.

Harsono IW et al.

Jamia Open, 2024

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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."