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Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958.
Genes (Basel). 2023.
PMID: 37895307
Free PMC article.
A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A.
Fermo E, et al.
Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30.
Mol Genet Metab. 2012.
PMID: 22705348
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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S.
Smolen C, et al. Among authors: mandara gml.
medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169.
medRxiv. 2023.
PMID: 37292616
Free PMC article.
Updated.
Preprint.
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