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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
(D424H)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+2 more
GPathogenic/Likely pathogenic
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic