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Variant profile

p.R549*

p.R549* · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
PHEXHGNC:891811

Associated phenotype records

Co-mentioned in the same publications

No retained phenotype associations.

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2019Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.BonePubMed ↗