Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis : A Case of Shwachman-Diamond Syndrome
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:43 |
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| Enthalten in: |
Annals of laboratory medicine - 43(2023), 6 vom: 01. Nov., Seite 638-641 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Lee, Heerah [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 03.07.2023 Date Revised 16.07.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.3343/alm.2023.43.6.638 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM358887585 |
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