Varaico: Literature-Extracted Genetic Variants

Gene:OR8D4
Variant:p.R53H
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OR8D4

NM_001005197.2:p.R53H

Associated Papers

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Hirsch Y et al.

International Journal of Molecular Sciences, 2023

37240244 (PubMed )
Supplement: ijms-24-08897-s001.zip › SuppTable1.xlsx › Homozygous

Identification of candidate genes for developmental colour agnosia in a single unique family.

Nijboer TCW et al.

Plos One, 2023

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5k
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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."