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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GPathogenic
DMD
(G480* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(G51fs +2 more)
Deletion
(frameshift variant +1 more)
Intermediate muscular dystrophy
GPathogenic
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