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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOF
(D547A +1 more)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 7
GBenign
MYOF
(R217S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 7
GPathogenic