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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THPO
(R119C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
THPO
(R38C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic