Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.R647C
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CELSR1

NM_001378328.1:p.R647C

Associated Papers

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M et al.

Journal of Medical Genetics, 2023

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Chen S et al.

Genome Research, 2022

34963661 (PubMed )
Supplement: supp_gr.275437.121_Supplementary_Table_1.xlsx › Non-recurrent_variants
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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."