Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.P3221L
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PKHD1

NM_138694.4:p.P3221L

Associated Papers

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.

Vintschger E et al.

European Journal of Human Genetics : Ejhg, 2023

36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.

Xiao M et al.

Frontiers in Medicine, 2022

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Clonal evolution in breast cancer revealed by single nucleus genome sequencing.

Wang Y et al.

Nature, 2014

25079324 (PubMed )
Supplement: NIHMS607979-supplement-1.pdf
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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."