Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics

Betül Teker,Gökce Akan,Hasan Hüseyin Kazan,Özge Özgen, Suzin Tatonyan, Mehmet Cihan Balci, Meryem Karaca, Fulya Kurekci, Edibe Pembegül Yıldız, Olcay Güngor, Adnan Deniz,Asuman Gedikbasi,Fatmahan Atalar, Gülden Fatma Gokcay, Mehves Poda

International journal of molecular sciences（2025）

Cited 0|Views1

Key words

TPP1,CLN2,long-read sequencing,TPP1 enzyme activity,comprehensive care,DNA sequencing

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined