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1 Ergebnisse
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Homozygous missense variants in YKT6 result in loss of func..:
Ma, Mengqi
;
Ganapathi, Mythily
;
Zheng, Yiming
...
Genetics in Medicine. 26 (2024) 7 - p. 101125 , 2024
Link:
https://doi.org/10.1016/j.gim.2024.101125
RT Journal T1
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2024.101125&Exemplar=1&LAN=DE A1 Ma, Mengqi A1 Ganapathi, Mythily A1 Zheng, Yiming A1 Tan, Kai-Li A1 Kanca, Oguz A1 Bove, Kevin E. A1 Quintanilla, Norma A1 Sag, Sebnem O. A1 Temel, Sehime G. A1 LeDuc, Charles A. A1 McPartland, Amanda J. A1 Pereira, Elaine M. A1 Shen, Yufeng A1 Hagen, Jacob A1 Thomas, Christie P. A1 Nguyen Galván, Nhu Thao A1 Pan, Xueyang A1 Lu, Shenzhao A1 Rosenfeld, Jill A. A1 Calame, Daniel G. A1 Wangler, Michael F. A1 Lupski, James R. A1 Pehlivan, Davut A1 Hertel, Paula M. A1 Chung, Wendy K. A1 Bellen, Hugo J. PB Elsevier BV YR 2024 SN 1098-3600 JF Genetics in Medicine VO 26 IS 7 SP 101125 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2024.101125 DO https://doi.org/10.1016/j.gim.2024.101125 SF ELIB - SuUB Bremen
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