Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.R2709G
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CELSR1

NM_001378328.1:p.R2709G

Associated Papers

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M et al.

Journal of Medical Genetics, 2023

Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.

Maltese PE et al.

American Journal of Medical Genetics. Part A, 2019

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."