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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPIDR
(C360fs +17 more)
Deletion
(frameshift variant +2 more)
Ovarian dysgenesis 9
GUncertain significance
SPIDR
(R108* +5 more)
Single nucleotide variant
(nonsense +3 more)
Ovarian dysgenesis 9
GPathogenic
SPIDR
(W116* +5 more)
Single nucleotide variant
(nonsense +3 more)
Ovarian dysgenesis 9
GPathogenic
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