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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPM4
(R105* +2 more)
Single nucleotide variant
(nonsense)
Bleeding disorder, platelet-type, 25
GPathogenic
TPM4
(Q108* +3 more)
Single nucleotide variant
(nonsense)
Bleeding disorder, platelet-type, 25
GPathogenic
TPM4
(R182C +3 more)
Single nucleotide variant
(missense variant)
Bleeding disorder, platelet-type, 25
GPathogenic
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