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Links from PubMed

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYAB
(A59fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1II
GUncertain significance
CRYAB
(D109G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GLikely pathogenic
CRYAB
(D109H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 2
GPathogenic
CRYAB
(G154S +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
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