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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LEMD3
(A718fs +1 more)
Duplication
(frameshift variant)
Dermatofibrosis lenticularis disseminata
+1 more
GPathogenic
LEMD3
Deletion
Osteopoikilosis
GPathogenic
LEMD3, LOC130008224
(Q153*)
Single nucleotide variant
(nonsense)
Osteopoikilosis
GPathogenic
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