P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424002620 |
| _version_ | 1797267513278464000 |
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| author | Tobias Boettcher Christian Beetz Daniel Schulze Deepa Saravanakumar Emir Zonic Sabine Schroeder Anett Kaune Omid Paknia Jorge Pinto Basto Peter Bauer |
| author_facet | Tobias Boettcher Christian Beetz Daniel Schulze Deepa Saravanakumar Emir Zonic Sabine Schroeder Anett Kaune Omid Paknia Jorge Pinto Basto Peter Bauer |
| author_sort | Tobias Boettcher |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:17:47Z |
| format | Article |
| id | doaj.art-37f0453c6a274296bf6eb4a8b6bbfcef |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:17:47Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-37f0453c6a274296bf6eb4a8b6bbfcef2024-03-09T09:31:14ZengElsevierGenetics in Medicine Open2949-77442024-01-012101116P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohortTobias Boettcher0Christian Beetz1Daniel Schulze2Deepa Saravanakumar3Emir Zonic4Sabine Schroeder5Anett Kaune6Omid Paknia7Jorge Pinto Basto8Peter Bauer9Centogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyInstitute of Biometry and Clinical Epidemiology, Charité-Universitätsmedizin Berlin, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, GermanyCentogene GmbH, Rostock, Germanyhttp://www.sciencedirect.com/science/article/pii/S2949774424002620 |
| spellingShingle | Tobias Boettcher Christian Beetz Daniel Schulze Deepa Saravanakumar Emir Zonic Sabine Schroeder Anett Kaune Omid Paknia Jorge Pinto Basto Peter Bauer P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort Genetics in Medicine Open |
| title | P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort |
| title_full | P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort |
| title_fullStr | P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort |
| title_full_unstemmed | P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort |
| title_short | P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort |
| title_sort | p219 genetic biochemical and clinical properties of gla p asp313tyr variant in a large german cohort |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424002620 |
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