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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALCRL

Variant:p.V205del1

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CALCRL

NM_005795.6:p.V205del1

hg38:chr2:187363386 GCTA>G

Associated Papers

Dawn of a New RAMPage.

Serafin DS et al.

Trends in Pharmacological Sciences, 2020

32115276 (PubMed )

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.

Mackie DI et al.

The Journal of Experimental Medicine, 2018

30115739 (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."