[Elsevier] P219: Updating the spectrum of TPP1 mutations suspected of causing CLN2 (Batten disease) to enable earlier genetic testing and inform prevalence

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journalㄩGenetics in Medicine Open

AuthorsㄩSara Pulit; Emanuela Izzo; Sherif Khattab; Robert Power; Rachel Moore; Melissa Spear; Melisa Chuong; Vincent Plagnol; Christian Beetz; Mandy Radefeldt

Published dateㄩ2026--

DOIㄩ10.1016/j.gimo.2026.103713

PDF linkㄩhttps://www.sciencedirect.com/sc ... 949774426002232/pdf

Article linkㄩhttps://doi.org/10.1016/j.gimo.2026.103713

Article SourceㄩElsevier BV


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