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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMS1
(P742L)
Single nucleotide variant
(missense variant)
Aplasia cutis congenita
GUncertain significance
ADAR
(S281G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+11 more
GUncertain significance
BMS1
(R930H)
Single nucleotide variant
(missense variant)
Aplasia cutis congenita
GPathogenic
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