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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERGIC1
Single nucleotide variant
(splice donor variant)
Arthrogryposis multiplex congenita 2, neurogenic type
GUncertain significance
LGI4
(M1T)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis multiplex congenita 2, neurogenic type
GPathogenic
ERGIC1
(V98E)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 2, neurogenic type
GPathogenic
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