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Variant profile

c.1394T>A

c.1394T>A · 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
TRPM1HGNC:714611

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
retinal dystrophyHP:000055611

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2019Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.Molecular visionPubMed ↗