Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family - Top-Institutions - MDSpire

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family

  • By

  • Pei Qian

  • Hui-mei Huang

  • Lei Suo

  • Zhijuan Li

  • Min Zhang

  • Ying Bao

  • May 7, 2026

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Top Institutions in Nephrology

Brief introduction explaining scope and methodology.

  • #1

    Columbia University Irving Medical Center/NewYork‑Presbyterian Hospital
    Columbia University Irving Medical Center/NewYork‑Presbyterian Hospital

    New York, NY

    Key Differentiators

    • Genetics
    • Nephrology

  • #2

    University of Minnesota (M Health Fairview)
    University of Minnesota (M Health Fairview)

    Minneapolis, MN

    Key Differentiators

    • Genetics
    • Pediatrics
    • Nephrology

  • #3

    Nanjing Children’s Hospital Affiliated with Nanjing Medical University
    Nanjing Children’s Hospital Affiliated with Nanjing Medical University

    Nanjing, Jiangsu

    Key Differentiators

    • Pediatrics
    • Genetics

  • #4

    University of Florida
    University of Florida

    Gainesville, FL

    Key Differentiators

    • Genetics
    • Pediatrics

  • #5

    Seoul National University Hospital
    Seoul National University Hospital

    Seoul, South Korea

    Key Differentiators

    • Genetics
    • Nephrology

Original Source(s)

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family

  • by Pei Qian, Hui-mei Huang, Lei Suo, Zhijuan Li, Min Zhang, Ying Bao

  • May 7, 2026

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