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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEC23B
(V594G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEC23A
(F382L)
Single nucleotide variant
(missense variant)
Craniolenticulosutural dysplasia
GPathogenic