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Variant profile

p.Phe154Leu

p.Phe154Leu · 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
ELAC2HGNC:1419811

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
cardiomyopathyHP:000163811

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi ArabiaCohort 6411

Supporting publications

1 records
  1. 2017The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.CardiologyPubMed ↗