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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
AMELY, FAM197Y1P
+32 more
Copy number loss
Klinefelter syndrome
GPathogenic
ARSD, ARSD-AS1
+7 more
Copy number loss
Klinefelter syndrome
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
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