Varaico: Literature-Extracted Genetic Variants

Gene:BRSK2
Variant:p.T730A
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BRSK2

NM_001256627.2:p.T730A

Associated Papers

Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.

Que Y et al.

Journal of Translational Medicine, 2024

39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge

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

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Cellular and genetic drivers of RNA editing variation in the human brain.

Cuddleston WH et al.

Nature Communications, 2022

35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
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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."