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Variant profile

R1379L

R1379L · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
VWFHGNC:1272611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
von Willebrand disease11

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2021Von Willebrand disease type 2B with a novel mutation in the VWF gene.Annals of Saudi medicinePubMed ↗