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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZSWIM7
(S58*)
Single nucleotide variant
Ovarian dysgenesis 10
GPathogenic
ZSWIM7
(C78fs)
Deletion
(frameshift variant)
Ovarian dysgenesis 10
GLikely pathogenic