Publications:

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Journal Of Paediatrics And Child Health

Lourenço, Charles M CM; Pessoa, Andre A; Mendes, Carmen C CC; Rivera-Nieto, Carolina C; Vergara, Diane D; Troncoso, Mónica M; Gardner, Emily E; Mallorens, Francisca F; Tavera, Lina L; Lizcano, Luis A LA; Atanacio, Nora N; Guelbert, Norberto N; Specola, Norma N; Mancilla, Nury N; de Souza, Carolina F M CFM; Mole, Sara E SE

Publication Date: 2021-04

Variant appearance in text: HR: 1483G>A

PubMed Link: 33377563

Variant Present in the following documents:

• JPC-57-519.pdf

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