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Variant profile

c.822G>A

c.822G>A · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
2Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
LMAN1HGNC:663111
MCFD2HGNC:1845111

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
hemophilia11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia11

Supporting publications

1 records
  1. 2022Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.The American journal of case reports1 mentions