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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLOC1S3

Variant:p.V160L

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BLOC1S3

NM_212550.5:p.V160L

hg38:chr19:45179774 G>T

Associated Papers

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

41300788 (PubMed )

Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf

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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."