Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.Q301H
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COG1

NM_018714.3:p.Q301H

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

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2016

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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."