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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA7

Variant:p.R1349W

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ABCA7

NM_019112.4:p.R1349W

hg38:chr19:1055191 C>T

Associated Papers

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

31230720 (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."