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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPG2

Variant:p.R624H

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HSPG2

NM_005529.7:p.R624H

hg38:chr1:21880783 C>T

Associated Papers

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Khalid Z et al.

American Journal of Medical Genetics. Part A, 2025

40714741 (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."