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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A13
(D228H)
Single nucleotide variant
(missense variant +1 more)
Fine-Lubinsky syndrome
GUncertain significance
HDLBP
Single nucleotide variant
(splice donor variant)
Fine-Lubinsky syndrome
GUncertain significance
POR
(R445P +3 more)
Single nucleotide variant
(missense variant)
Fine-Lubinsky syndrome
GLikely pathogenic
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