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Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Bouchoucha S et al.
Frontiers in Pediatrics, 2023
Targeting Adenylate Cyclase Family: New Concept of Targeted Cancer Therapy.
Guo R et al.
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De novo mutations in moderate or severe intellectual disability.
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25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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