A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia
Author:
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Sharkia, Rajech; Zalan, Abdelnaser; Jabareen-Masri, Azhar; Hengel, Holger; Schoels, Ludger; Kessel, Amit; Azem, Abdussalam; Mahajnah, Muhammad
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Tübinger Autor(en):
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Published in:
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American Journal of Medical Genetics Part A
(2019), Bd.
179,
H.
7,
S.
1338-1345
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Verlagsangabe:
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Wiley
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Language:
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English
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Full text:
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http://dx.doi.org/10.1002/ajmg.a.61168
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ISSN:
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1552-4833
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DDC Classifikation:
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570 - Life sciences; biology 610 - Medicine and health
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Dokumentart:
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Article
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Show full item record
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