Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Q316*
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GALC

NM_000153.4:p.Q316*

Associated Papers

Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.

Chan OYM et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021

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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."