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Details on Person Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
| Class:Id | LiteratureReference:9941281 |
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| _displayName | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
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| _timestamp | 2025-03-07 10:09:08 |
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| author | [Person:9941276] Schneeberger, Pauline E
[Person:9941059] von Elsner, Leonie
[Person:9941014] Barker, Emma L
[Person:2453843] Meinecke, Peter
[Person:5638266] Marquardt, Iris
[Person:9857211] Alawi, Malik
[Person:9823200] Steindl, Katharina
[Person:9823168] Joset, Pascal
[Person:2453901] Rauch, Anita
[Person:9941292] Zwijnenburg, Petra J G
[Person:9941093] Weiss, Marjan M
[Person:9941084] Merry, Catherine L R
[Person:9644231] Kutsche, Kerstin |
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| created | [InstanceEdit:9941068] Stephan, Ralf, 2025-03-07 |
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| journal | Am J Hum Genet |
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| pages | 1044-1061 |
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| pubMedIdentifier | 33159882 |
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| title | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
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| volume | 107 |
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| year | 2020 |
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| (literatureReference) | [Reaction:2076508] HS2ST1 trimer sulfates IdoA at C2 in heparan sulfate [Homo sapiens] |
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