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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPH
(K202R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ASPH
(K103T +1 more)
Single nucleotide variant
(missense variant +1 more)
Exercise-induced malignant hyperthermia
GPathogenic