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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXB

Variant:p.H294R

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HEXB

NM_000521.4:p.H294R

hg38:chr5:74713615 A>G

Associated Papers

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

Fernández-Eulate G et al.

Neurology. Genetics, 2023

37470033 (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."