A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.

Huang H, Cheng C, Chen P, Yang F, Pan S, Xie F, Zhao S, Chen X

DOI: 10.1016/j.gene.2026.150340
Published: 2026 Nov 20
Container: Gene
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gene.2026.150340,
  title = {A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.},
  author = {Huang H and Cheng C and Chen P and Yang F and Pan S and Xie F and Zhao S and Chen X},
  year = {2026},
  journal = {Gene},
  doi = {10.1016/j.gene.2026.150340},
  url = {https://doi.org/10.1016/j.gene.2026.150340}
}

RIS

TY  - JOUR
TI  - A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.
AU  - Huang H
AU  - Cheng C
AU  - Chen P
AU  - Yang F
AU  - Pan S
AU  - Xie F
AU  - Zhao S
AU  - Chen X
PY  - 2026
JO  - Gene
DO  - 10.1016/j.gene.2026.150340
UR  - https://doi.org/10.1016/j.gene.2026.150340
ER  -

APA

H, H., C, C., P, C., F, Y., S, P., F, X., S, Z., & X, C. (2026). A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.. Gene. https://doi.org/10.1016/j.gene.2026.150340

Source records

pubmed · retrieved 2026-09-25T17:50:01.783Z