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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPH

Variant:p.R688G

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ASPH

NM_004318.4:p.R688G

hg38:chr8:61517592 G>C

Associated Papers

A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.

Ibarra-Ramírez M et al.

Genes, 2024

39336711 (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."