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Variant profile

c.145C>T

c.145C>T · 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
GLB1HGNC:429811

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
lysosomal storage diseaseHP:000354111

Associated population records

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

Supporting publications

1 records
  1. 2004Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.Human mutationPubMed ↗