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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPH

Variant:p.R376G

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ASPH

NM_004318.4:p.R376G

hg38:chr8:61576795 G>C

Associated Papers

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

Chen ZX et al.

Gene, 2024

38788814 (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."