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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
(G607fs)
Deletion
(frameshift variant)
Primary adrenocortical insufficiency
GPathogenic
ABCD1
(S606L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GPathogenic