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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDS
(V83G)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-II
+6 more
GUncertain significance
Translocation
Posteriorly placed tongue
+17 more
GLikely pathogenic