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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA2
Single nucleotide variant
(intron variant)
Merosin deficient congenital muscular dystrophy
GUncertain significance
LAMA2
Deletion
(nonsense)
LAMA2-related muscular dystrophy
+2 more
GPathogenic