[Elsevier] A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease

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journalㄩGene

AuthorsㄩHui Huang; Chen Cheng; Peiwen Chen; Fang Yang; Shengbao Pan; Feng Xie; Sheng Zhao; Xinlin Chen

Published dateㄩ2026-11-

DOIㄩ10.1016/j.gene.2026.150340

PDF linkㄩhttps://www.sciencedirect.com/science/article/pii/S0378111926003501/pdf

Article linkㄩhttps://doi.org/10.1016/j.gene.2026.150340


Article Sourceㄩ<span style="color: #0E8ED8">Elsevier BV</span>﹝


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