Varaico: Literature-Extracted Genetic Variants

Gene:CYP39A1
Variant:p.R23P
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CYP39A1

NM_016593.5:p.R23P

Associated Papers

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Li Z et al.

Jama, 2021

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Y-01A.domain

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels.

Stiles AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s012.xlsx › all_drug.csv
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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."