Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO1
Variant:p.R12H
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CALCOCO1

NM_020898.3:p.R12H

Associated Papers

Mass spectrometry proteomics reveals a function for mammalian CALCOCO1 in MTOR-regulated selective autophagy.

Stefely JA et al.

Autophagy, 2020

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL4

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk.

Hartmaier RJ et al.

Bmc Cancer, 2009

Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort.

Haiman CA et al.

Bmc Cancer, 2009

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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."