Varaico: Literature-Extracted Genetic Variants

Gene:OR5AK2
Variant:p.S291R
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OR5AK2

NM_001005323.1:p.S291R

Associated Papers

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iWT1_2_

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.

Pareja F et al.

Nature Communications, 2018

30166553 (PubMed )
Supplement: 41467_2018_5886_MOESM1_ESM.pdf

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Takahashi K et al.

Human Genome Variation, 2018

30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.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."