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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPMT
(Y166C)
Single nucleotide variant
(missense variant)
Thiopurine response
Gdrug response
TPMT
(G88S)
Single nucleotide variant
(missense variant)
Thiopurine response
Gdrug response
TPMT
(W78C)
Single nucleotide variant
(missense variant)
Thiopurine response
Gdrug response
TPMT
(W33fs)
Duplication
(frameshift variant)
Thiopurine response
Gdrug response
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