A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K

Open source

DOI: 10.1007/s13730-026-01132-3
Published: 2026 May 30
Container: CEN case reports
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1007/s13730-026-01132-3,
  title = {A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.},
  author = {Sy PM and Baba M and Fujiwara K and Yamamura N and Kawato K and Nishi E and Aoyama S and Kimura Y and Inoki Y and Nagano C and Sakakibara N and Horinouchi T and Yamamura T and Ishimori S and Morisada N and Nozu K},
  year = {2026},
  journal = {CEN case reports},
  doi = {10.1007/s13730-026-01132-3},
  url = {https://doi.org/10.1007/s13730-026-01132-3}
}

RIS

TY  - JOUR
TI  - A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.
AU  - Sy PM
AU  - Baba M
AU  - Fujiwara K
AU  - Yamamura N
AU  - Kawato K
AU  - Nishi E
AU  - Aoyama S
AU  - Kimura Y
AU  - Inoki Y
AU  - Nagano C
AU  - Sakakibara N
AU  - Horinouchi T
AU  - Yamamura T
AU  - Ishimori S
AU  - Morisada N
AU  - Nozu K
PY  - 2026
JO  - CEN case reports
DO  - 10.1007/s13730-026-01132-3
UR  - https://doi.org/10.1007/s13730-026-01132-3
ER  -

APA

PM, S., M, B., K, F., N, Y., K, K., E, N., S, A., Y, K., Y, I., C, N., N, S., T, H., T, Y., S, I., N, M., & K, N. (2026). A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.. CEN case reports. https://doi.org/10.1007/s13730-026-01132-3

Source records

pubmed · retrieved 2026-09-27T10:02:58.402Z