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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA3
(R2214* +3 more)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
+4 more
GPathogenic
LAMA3
Single nucleotide variant
(splice donor variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GLikely pathogenic