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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAFA
(T57R)
Single nucleotide variant
(missense variant)
Islet cell adenomatosis
GPathogenic
MAFA
(G266C)
Single nucleotide variant
(missense variant)
Islet cell adenomatosis
GBenign
MAFA
(F41V)
Single nucleotide variant
(missense variant)
Islet cell adenomatosis
GUncertain significance
MAFA
(S64F)
Single nucleotide variant
(missense variant)
Islet cell adenomatosis
GLikely pathogenic
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