Timothy syndrome associated_with CACNA1C

Subject: Timothy syndrome
Relation: associated_with
Object: CACNA1C
p-value: —

Evidence from: primary | all sources

Evidence (1 sources)

Assembly of functionally integrated human forebrain spheroids. (2017) PMID:28445465 cited

The TS point mutation in exon 8a of CACNA1C was verified.

confidence: 0.90