Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.R398C
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GUSB

NM_000181.4:p.R398C

Associated Papers

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

Makhamreh MM et al.

Orphanet Journal of Rare Diseases, 2025

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

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

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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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."