Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.S327T
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BBS12

NM_152618.3:p.S327T

Associated Papers

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA et al.

Genome Biology, 2014

24667040 (PubMed )
Supplement: gb-2014-15-3-r53-S3.pdf
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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."