A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

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Veröffentlicht in:American journal of medical genetics. Part A 2022, Vol.188 (4), p.1299-1306
Hauptverfasser: Sibbin, Kristina, Yap, Patrick, Nyaga, Denis, Heller, Raoul, Evans, Stephen, Strachan, Kate, Alburaiky, Salam, Nguyen, Han M Alex, Hermann-Le Denmat, Sylvie, Ganley, Austen R D, O'Sullivan, Justin M, Bloomfield, Frank H
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container_title American journal of medical genetics. Part A
container_volume 188
creator Sibbin, Kristina
Yap, Patrick
Nyaga, Denis
Heller, Raoul
Evans, Stephen
Strachan, Kate
Alburaiky, Salam
Nguyen, Han M Alex
Hermann-Le Denmat, Sylvie
Ganley, Austen R D
O'Sullivan, Justin M
Bloomfield, Frank H
description
doi_str_mv 10.1002/ajmg.a.62631
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source Wiley Online Library Journals Frontfile Complete
title A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia
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