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Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci. 2023 May 17;24(10):8897. doi: 10.3390/ijms24108897.
Int J Mol Sci. 2023.
PMID: 37240244
Free PMC article.
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: mcpartland aj.
Genet Med. 2024 Mar 21;26(7):101125. doi: 10.1016/j.gim.2024.101125. Online ahead of print.
Genet Med. 2024.
PMID: 38522068
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