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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADH5
Deletion
(inframe_deletion)
AMED syndrome, digenic
GUncertain significance
ADH5
Single nucleotide variant
(missense variant)
AMED syndrome, digenic
GPathogenic
ADH5
Single nucleotide variant
(splice donor variant)
AMED syndrome, digenic
GPathogenic
ADH5
Deletion
(nonsense)
AMED syndrome, digenic
GPathogenic
ALDH2
(E504K +1 more)
Single nucleotide variant
(missense variant)
ethanol response - Toxicity
Gdrug response
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