Varaico: Literature-Extracted Genetic Variants

Gene:STARD3
Variant:p.R352H
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STARD3

NM_006804.4:p.R352H

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.

Beaudoin M et al.

Plos Genetics, 2013

24068945 (PubMed )
Supplement: pgen.1003723.s018.xlsx › Supporting_Table_4
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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."