Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "HADJ-RABIA, Smail"
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Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
MICHAUD, Vincent; SEQUEIRA, Angèle; MERCIER, Elina ...(Pigment Cell & Melanoma research, 2023-08-31)Article de revueOpen access -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue