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Variant profile

p.Ala874Asp

p.Ala874Asp · 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
CDH23HGNC:1373311

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. 2026A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma.Orphanet journal of rare diseasesPubMed ↗