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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPAMD8

Variant:p.W751delFs

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CPAMD8

NM_015692.5:p.W751delFs

hg38:chr19:16957875 TC>T

Associated Papers

Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.

Liu L et al.

Molecular Vision, 2023

38222456 (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."