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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXB

Variant:p.A40fs

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HEXB

NM_000521.4:p.A40fs

hg38:chr5:74685378 G>GN

Associated Papers

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Xie H et al.

Medicine, 2023

37327298 (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."