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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP1B1

Variant:p.T404S

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CYP1B1

NM_000104.4:p.T404S

hg38:chr2:38071143 G>C

Associated Papers

Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

Messina-Baas OM et al.

Ophthalmic Research, 2007

17164573 (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."