A 'leaky' hypomorphic splicing variant in BLTP1 explains prolonged survival in a patient with Alkuraya-Kučinskas syndrome

SSRN Electronic Journal 2026 Preprint Open access

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Authors: Francesco Pintus, Elena Sukarova-Angelovska, Arianna Spagliardi, Chiara Giovenino, Paola Dimartino, Verdiana Pullano, Simona Cardaropoli, Silvia Carestiato, Natalija Angelkova, Александар Петличковски, Tommaso Pippucci, Giovanni Battista Ferrero
+2 more Alfredo Brusco, Slavica Trajkova
DOI: 10.2139/ssrn.6035114
Cited by: 0

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases RNA Research and Splicing

Publication details

Journal / source
SSRN Electronic Journal
Publication date
1 January 2026
Document type
Preprint