Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.W246fs
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CYP1B1

NM_000104.4:p.W246fs

Associated Papers

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Waryah YM et al.

International Journal of Ophthalmology, 2019

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Rauf B et al.

Human Genome Variation, 2016

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Firasat S et al.

Molecular Vision, 2008

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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."