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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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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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  Data: 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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  Data: <searchLink fieldCode="AR" term="%22Chen%2C+Qi%22">Chen, Qi</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shi%2C+Lin%22">Shi, Lin</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhu%2C+Xiaolan%22">Zhu, Xiaolan</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> zxl2517@163.com</i>
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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 10/29/2025, Vol. 18 Issue 1, p1-8. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188948863
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        Value: 10.1186/s12920-025-02248-8
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      – Code: eng
        Text: English
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      – TitleFull: 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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            NameFull: Chen, Qi
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            NameFull: Shi, Lin
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            NameFull: Zhu, Xiaolan
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              Text: 10/29/2025
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              Y: 2025
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