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Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
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Clinical Case Reports, 2024
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Supplement: CCR3-12-e8453-s001.xlsx › SNP
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
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Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
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Journal of Translational Medicine, 2018
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