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A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

H. Mishima, Yoriko Watanabe, Uladzislau Korzun, Ko-ichiro Yoshiura

2026.6.22JOURNAL OF HUMAN GENETICS

DOI: 10.1038/s10038-026-01487-6

Abstract

Abstract is not available.

Citation format

MISHIMA, H., et al. A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient. JOURNAL OF HUMAN GENETICS, 2026.