Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R1364C
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PKD1

NM_001009944.3:p.R1364C

Associated Papers

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Topak A

Laboratory Medicine, 2024

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_1
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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."