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Biallelic and monoallelic variants in PLXNA1 are implicated..:
Dworschak, Gabriel C
;
Punetha, Jaya
;
Kalanithy, Jeshurun C
...
https://mediatum.ub.tum.de/1625082. , 2021
Link:
https://mediatum.ub.tum.de/1625082
RT Journal T1
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
UL https://suche.suub.uni-bremen.de/peid=base-fttumuenchen:oai:mediatum.ub.tum.de:node_1625082&Exemplar=1&LAN=DE A1 Dworschak, Gabriel C A1 Punetha, Jaya A1 Kalanithy, Jeshurun C A1 Mingardo, Enrico A1 Erdem, Haktan B A1 Akdemir, Zeynep C A1 Karaca, Ender A1 Mitani, Tadahiro A1 Marafi, Dana A1 Fatih, Jawid M A1 Jhangiani, Shalini N A1 Hunter, Jill V A1 Dakal, Tikam Chand A1 Dhabhai, Bhanupriya A1 Dabbagh, Omar A1 Alsaif, Hessa S A1 Alkuraya, Fowzan S A1 Maroofian, Reza A1 Houlden, Henry A1 Efthymiou, Stephanie A1 Dominik, Natalia A1 Salpietro, Vincenzo A1 Sultan, Tipu A1 Haider, Shahzad A1 Bibi, Farah A1 Thiele, Holger A1 Hoefele, Julia A1 Riedhammer, Korbinian M A1 Wagner, Matias A1 Guella, Ilaria A1 Demos, Michelle A1 Keren, Boris A1 Buratti, Julien A1 Charles, Perrine A1 Nava, Caroline A1 Héron, Delphine A1 Heide, Solveig A1 Valkanas, Elise A1 Waddell, Leigh B A1 Jones, Kristi J A1 Oates, Emily C A1 Cooper, Sandra T A1 MacArthur, Daniel A1 Syrbe, Steffen A1 Ziegler, Andreas A1 Platzer, Konrad A1 Okur, Volkan A1 Chung, Wendy K A1 O'Shea, Sarah A A1 Alcalay, Roy A1 Fahn, Stanley A1 Mark, Paul R A1 Guerrini, Renzo A1 Vetro, Annalisa A1 Hudson, Beth A1 Schnur, Rhonda E A1 Hoganson, George E A1 Burton, Jennifer E A1 McEntagart, Meriel A1 Lindenberg, Tobias A1 Yilmaz, Öznur A1 Odermatt, Benjamin A1 Pehlivan, Davut A1 Posey, Jennifer E A1 Lupski, James R A1 Reutter, Heiko PB Springer Science and Business Media LLC YR 2021 K1 info:eu-repo/classification/ddc/ JF https://mediatum.ub.tum.de/1625082 LK http://dx.doi.org/https://mediatum.ub.tum.de/1625082 DO https://mediatum.ub.tum.de/1625082 SF ELIB - SuUB Bremen
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