Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.H294N
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GBA1

NM_000157.4:p.H294N

Associated Papers

Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.

Lipiński P et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2024

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V et al.

Human Mutation, 2003

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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."