Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.N1494fs
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PKHD1

NM_138694.4:p.N1494fs

Associated Papers

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Hu P et al.

American Journal of Obstetrics and Gynecology, 2023

[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].

Qiao F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.

Zhou X et al.

Journal of Clinical Laboratory Analysis, 2020

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