Varaico: Literature-Extracted Genetic Variants

Gene:PGRMC1
Variant:p.E4delins
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PGRMC1

NM_006667.5:p.E4delins

Associated Papers

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.

Jones JL et al.

European Journal of Human Genetics : Ejhg, 2021

33867527 (PubMed )
Supplement: 41431_2021_889_MOESM1_ESM.pdf

A novel locus for X-linked congenital cataract on Xq24.

Craig JE 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."