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ATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report.
Case Rep Oncol. 2024 Feb 27;17(1):386-391. doi: 10.1159/000536105. eCollection 2024 Jan-Dec.
Case Rep Oncol. 2024.
PMID: 38415270
Free PMC article.
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression.
Paganoni AJJ, Amoruso F, Porta Pelayo J, Calleja-Pérez B, Vezzoli V, Duminuco P, Caramello A, Oleari R, Fernández-Jaén A, Cariboni A.
Paganoni AJJ, et al. Among authors: porta pelayo j.
Int J Mol Sci. 2022 May 18;23(10):5632. doi: 10.3390/ijms23105632.
Int J Mol Sci. 2022.
PMID: 35628442
Free PMC article.
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