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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FHL1
(C289fs +2 more)
Duplication
(frameshift variant +2 more)
Emery-Dreifuss muscular dystrophy 6
GPathogenic
FHL1
(C209R +2 more)
Single nucleotide variant
(missense variant +2 more)
X-linked myopathy with postural muscle atrophy
GPathogenic
FHL1
Single nucleotide variant
(stop lost +2 more)
Emery-Dreifuss muscular dystrophy 6
GPathogenic
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