Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report - Poll - MDSpire

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • By

  • Wang Li

  • Gao-Hui Cao

  • Nan-Nan Li

  • Jie-Yi Long

  • You-Qing Tang

  • Ji-Shi Liu

  • Liang-Liang Fan

  • July 7, 2026

  • 0 min

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Original Source(s)

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • by Wang Li, Gao-Hui Cao, Nan-Nan Li, Jie-Yi Long, You-Qing Tang, Ji-Shi Liu, Liang-Liang Fan

  • July 7, 2026

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