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Variant profile

c.969G>A

c.969G>A · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
0Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications

No retained gene associations.

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
intellectual disabilityHP:000124911
homocystinuria11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia · RiyadhCohort 3311

Supporting publications

1 records
  1. 2025Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.JIMD reportsPubMed ↗