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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM
(Y1325*)
Duplication
(nonsense)
Microcephaly 5, primary, autosomal recessive
GPathogenic
ASPM
(W695*)
Single nucleotide variant
(nonsense)
Microcephaly 5, primary, autosomal recessive
GPathogenic