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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARP7, MIR302CHG
(R143fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Microcephalic primordial dwarfism, Alazami type
GLikely pathogenic
LARP7, MIR302CHG
(T344fs +4 more)
Duplication
(frameshift variant)
Microcephalic primordial dwarfism, Alazami type
GPathogenic