Varaico: Literature-Extracted Genetic Variants

Gene:BRWD1
Variant:p.R219H
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BRWD1

NM_033656.4:p.R219H

Associated Papers

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.

Bestetti I et al.

Human Reproduction (oxford, England), 2021

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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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."