Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.
| Autor: | Uddin, Mohammed Shahab1 uddinmo@ngha.med.sa, Al Fulayyih, Saleh1, Al Denaini, Fatin Fahad1, Al Hatlani, Maher Mohammed1 |
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| Zdroj: | American Journal of Case Reports. 10/6/2022, Vol. 23, p1-9. 9p. |
| Databáze: | Academic Search Ultimate |
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