Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.R1057C
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CELSR1

NM_001378328.1:p.R1057C

Associated Papers

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M et al.

Journal of Medical Genetics, 2023

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

Digenic variants of planar cell polarity genes in human neural tube defect patients.

Wang L et al.

Molecular Genetics and Metabolism, 2018

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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."