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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAP2
(Q125fs)
Deletion
(frameshift variant)
MHC class I deficiency
GPathogenic
TAP2
(R273*)
Single nucleotide variant
(nonsense)
MHC class I deficiency 2
GPathogenic