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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SREBF1
(L530P +9 more)
Single nucleotide variant
(missense variant +2 more)
IFAP syndrome 2
+1 more
GPathogenic
SREBF1
(N504del +9 more)
Deletion
(inframe_deletion +2 more)
IFAP syndrome 2
+1 more
GPathogenic
SREBF1
(R557C +9 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary mucoepithelial dysplasia
+2 more
GPathogenic
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