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A Novel Missense HNRNPA1 Variant in the PY-NLS Domain in a Patient with Late-Onset Distal Myopathy.

Pitcha Chompoopong,Margherita Milone,Zhiyv Niu,Gaofeng Cui,Georges Mer,Teerin Liewluck

Neuromuscular Disorders（2022）

Cited 5|Views1
Key words
Hnrnpa1,Inclusion body myopathy,Distal myopathy,Nuclear localization sequence,Multisystem proteinopathy
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