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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862725, MAPRE2
(M1fs)
Deletion
(frameshift variant +2 more)
not provided
GLikely benign
MAPRE2
(R115Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Skin creases, congenital symmetric circumferential, 2
GLikely pathogenic