Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.P471L
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HEXA

NM_000520.6:p.P471L

Associated Papers

[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].

Tian MQ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2022

Spontaneous appearance of Tay-Sachs disease in an animal model.

Zeng BJ et al.

Molecular Genetics and Metabolism, 0

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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."