Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G359Splc
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TPP1

NM_000391.4:p.G359Splc

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
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