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Evaluation for genetic disease in kidney transplant candidates: A practice resource.
Ames EG, Anand PM, Bekheirnia MR, Doshi MD, El Ters M, Freese ME, Gbadegesin RA, Guay-Woodford LM, Java A, Ranch D, Rodig NM, Wang X, Thomas CP. Ames EG, et al. Among authors: thomas cp. Am J Transplant. 2024 Oct 31:S1600-6135(24)00679-8. doi: 10.1016/j.ajt.2024.10.019. Online ahead of print. Am J Transplant. 2024. PMID: 39488252 Review.
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.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: thomas cp. Genet Med. 2024 Jul;26(7):101125. doi: 10.1016/j.gim.2024.101125. Epub 2024 Mar 21. Genet Med. 2024. PMID: 38522068 Free PMC article.
274 results