Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.P93fs
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ETFB

NM_001985.3:p.P93fs

Associated Papers

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND et al.

Molecular Genetics & Genomic Medicine, 2018

30008175 (PubMed )
Supplement: MGG3-6-749-s004.xlsx › ASD_variants_anno_nsfp.hg19_mul

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.s008.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."