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Variant profile

c.1325_1326del

c.1325_1326del · 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
SLC52A3HGNC:1618711

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
hearing lossHP:000036511

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 2311

Supporting publications

1 records
  1. 2026SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.European journal of human genetics : EJHGPubMed ↗