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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, ACAP1
+25 more
Duplication
Bilateral conductive hearing impairment
+3 more
GLikely pathogenic
SLC25A12, DLX1
+5 more
Copy number gain
Isolated Pierre-Robin syndrome
+3 more
GUncertain significance