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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(E438Q)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
HERC2
(N1682S)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
+10 more
GUncertain significance