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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CELSR1

Variant:p.L44L

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CELSR1

NM_001378328.1:p.L44L

hg38:chr22:46537039 G>A

Associated Papers

A novel mutation in CELSR1 is associated with hereditary lymphedema.

Gonzalez-Garay ML et al.

Vascular Cell, 2016

26855770 (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."