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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MDM4
(I126V +3 more)
Single nucleotide variant
(missense variant +2 more)
Bone marrow failure syndrome 6
GUncertain significance
MDM4
(S160P +4 more)
Single nucleotide variant
(missense variant +1 more)
Bone marrow failure syndrome 6
GUncertain significance
MDM4
(T128M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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