Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.I537T
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GUSB

NM_000181.4:p.I537T

Associated Papers

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.

Makhamreh MM et al.

Orphanet Journal of Rare Diseases, 2025

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

Zhou X et al.

Frontiers in Genetics, 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."