Interpretation challenges of novel dual‐class missense...

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Molecular Genetics & Genomic Medicine 2020 / 06

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
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Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1341
Date:
June, 2020
File:
PDF, 566 KB
2020
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