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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CELSR1

Variant:p.R2989fs

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CELSR1

NM_001378328.1:p.R2989fs

hg38:chr22:46364066 ACG>N

Associated Papers

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M et al.

Journal of Medical Genetics, 2023

37225411 (PubMed )

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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."