Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2100L
Back to variants list

PKD1

NM_001009944.3:p.S2100L

Associated Papers

Diagnosing Monogenic Stroke at Younger Age.

Ilinca A et al.

Stroke, 2024

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M et al.

Journal of Nephrology, 2021

Mutation screening of the PKD1 transcript by RT-PCR.

Burtey S et al.

Journal of Medical Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."