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Items: 2

1.

U1 snRNA Gene Mutation

A change in the nucleotide sequence of the U1 snRNA gene. [from NCI]

MedGen UID:
1817683
Concept ID:
C5708778
Cell or Molecular Dysfunction
2.

Anti-U1 ribonucleoprotein antibody positivity

The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. [from HPO]

MedGen UID:
1770556
Concept ID:
C5421559
Laboratory or Test Result

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