Varaico: Literature-Extracted Genetic Variants

Gene:PRELP
Variant:p.M157V
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PRELP

NM_002725.4:p.M157V

Associated Papers

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 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."