Varaico: Literature-Extracted Genetic Variants

Gene:PKD1L1
Variant:p.R2669*
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PKD1L1

NM_138295.5:p.R2669*

Associated Papers

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Srivastava P et al.

Frontiers in Genetics, 2023

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

Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis.

Correa ARE et al.

Prenatal Diagnosis, 2021

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

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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."