Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.Y546*
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EFCAB13

NM_152347.5:p.Y546*

Associated Papers

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM2_ESM.xlsx › UAE_S002

Fine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancer.

Laitinen VH et al.

International Journal of Cancer, 2015

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."