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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECEL1

Variant:p.R447C

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ECEL1

NM_004826.4:p.R447C

hg38:chr2:232484069 G>A

Associated Papers

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

Palombo F et al.

Human Genetics, 2020

32488467 (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."