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Molecular Genetics and Metabolism Reports|June 30, 2026
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenicModibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, et al.
Gene|November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
International Journal of Molecular Sciences|August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of AlbinismModibo Diallo, Cécile Courdier, Elina Mercier, et al.
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