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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZP2
Single nucleotide variant
(splice donor variant)
Oocyte maturation defect 6
GLikely pathogenic
ZP2
(C372S)
Single nucleotide variant
(missense variant +1 more)
Oocyte maturation defect 6
GPathogenic
ZP2
(C566fs +1 more)
Duplication
(frameshift variant +1 more)
Oocyte maturation defect 6
GPathogenic
ZP2
Single nucleotide variant
(splice acceptor variant)
Oocyte maturation defect 6
GPathogenic
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