Varaico: Literature-Extracted Genetic Variants

Gene:SP7
Variant:p.K230R
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SP7

NM_001173467.3:p.K230R

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Chen HJ et al.

Brain : a Journal of Neurology, 2019

31605140 (PubMed )
Supplement: awz313_supplementary_materials.zip › awz313-suppl_data › Supplementary_materials.pdf

Characterization of Osterix protein stability and physiological role in osteoblast differentiation.

Peng Y et al.

Plos One, 2013

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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."