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Biallelic variants in ribonuclease inhibitor (RNH1), an inf..:
Shashi, Vandana
;
Schoch, Kelly
;
Ganetzky, Rebecca
...
Genetics in Medicine. 25 (2023) 9 - p. 100897 , 2023
Link:
https://doi.org/10.1016/j.gim.2023.100897
RT Journal T1
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2023.100897&Exemplar=1&LAN=DE A1 Shashi, Vandana A1 Schoch, Kelly A1 Ganetzky, Rebecca A1 Kranz, Peter G. A1 Sondheimer, Neal A1 Markert, M. Louise A1 Cope, Heidi A1 Sadeghpour, Azita A1 Roehrs, Philip A1 Arbogast, Thomas A1 Muraresku, Colleen A1 Acosta, Maria T. A1 Adam, Margaret A1 Adams, David R. A1 Alvarez, Raquel L. A1 Alvey, Justin A1 Amendola, Laura A1 Andrews, Ashley A1 Ashley, Euan A. A1 Bacino, Carlos A. A1 Bademci, Guney A1 Balasubramanyam, Ashok A1 Baldridge, Dustin A1 Bale, Jim A1 Bamshad, Michael A1 Barbouth, Deborah A1 Bayrak-Toydemir, Pinar A1 Beck, Anita A1 Beggs, Alan H. A1 Behrens, Edward PB Elsevier BV YR 2023 SN 1098-3600 JF Genetics in Medicine VO 25 IS 9 SP 100897 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2023.100897 DO https://doi.org/10.1016/j.gim.2023.100897 SF ELIB - SuUB Bremen
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