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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126863160, NAGA
(S160C)
Single nucleotide variant
(missense variant)
Alpha-N-acetylgalactosaminidase deficiency
+4 more
GConflicting classifications of pathogenicity
NAGA
(E325K)
Single nucleotide variant
(missense variant)
Alpha-N-acetylgalactosaminidase deficiency
+5 more
GConflicting classifications of pathogenicity