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Links from Gene

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPD1
(K48I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPD1
Deletion
not provided
GPathogenic
GPD1
Microsatellite
(splice donor variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
GLikely pathogenic
GPD1
Single nucleotide variant
(splice donor variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
GLikely pathogenic
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