Varaico: Literature-Extracted Genetic Variants

Gene:PKD1L1
Variant:p.S2646*
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PKD1L1

NM_138295.5:p.S2646*

Associated Papers

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.

Gu H et al.

Journal of Human Genetics, 2022

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Antony D et al.

Frontiers in Genetics, 2022

Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.

Correa ARE et al.

Annals of Human Genetics, 2021

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Berauer JP et al.

Hepatology (baltimore, Md.), 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."