Varaico: Literature-Extracted Genetic Variants

Gene:OR52M1
Variant:p.S246fs
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OR52M1

NM_001004137.1:p.S246fs

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
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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."