Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.H710R
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HOOK1

NM_015888.6:p.H710R

Associated Papers

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

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."