A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

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Bibliographic Details
Title: A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Authors: Chen, Qi1,2 (AUTHOR), Shi, Lin3 (AUTHOR), Zhu, Xiaolan4 (AUTHOR) zxl2517@163.com
Source: BMC Medical Genomics. 10/29/2025, Vol. 18 Issue 1, p1-8. 8p.
Database: Academic Search Ultimate
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ISSN:17558794
DOI:10.1186/s12920-025-02248-8