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Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication |
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Titel: |
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication |
Auteur: |
Qiao, Ying Bagheri, Hani Tang, Flamingo Badduke, Chansonette Martell, Sally Lewis, Suzanne M.E. Robinson, Wendy Connolly, Mary B. Arbour, Laura Rajcan-Separovic, Evica |
Verschenen in: |
European journal of medical genetics |
Paginering: |
Jaargang 62 (2019) nr. 2 pagina's 103-108 |
Jaar: |
2019 |
Inhoud: |
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Uitgever: |
Published by Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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