Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Y449fs
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TPP1

NM_000391.4:p.Y449fs

Associated Papers

Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.

Baranzehi T et al.

Journal of Clinical Medicine, 2022

36362641 (PubMed )
Supplement: jcm-11-06415-s001.zip › jcm-1964336-supplementary.pdf
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