Identification of a novel protein truncating mutation...

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Molecular Genetics & Genomic Medicine 2020 / 01

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
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Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1060
Date:
January, 2020
File:
PDF, 546 KB
2020
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