A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
Article in BMC Medical Genomics (July 2024)
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Article in BMC Medical Genomics (July 2024)
Article in Pediatric Blood & Cancer (June 2024)
Article in Indian Journal of Paediatric Dermatology (January 2023)