Varaico: Literature-Extracted Genetic Variants

Gene:PROSER2
Variant:p.E203K
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PROSER2

NM_153256.4:p.E203K

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

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Albrechtsen A et al.

Diabetologia, 2013

23160641 (PubMed )
Supplement: 125_2012_2756_MOESM26_ESM.pdf
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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."