Varaico: Literature-Extracted Genetic Variants

Gene:COL27A1
Variant:p.T388I
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COL27A1

NM_032888.4:p.T388I

Associated Papers

Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population.

Lu Q et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Study on pathogenic genes of dwarfism disease by next-generation sequencing.

Yang LL et al.

World Journal of Clinical Cases, 2021

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Li Y et al.

Molecular Medicine Reports, 2020

32705272 (PubMed )
Supplement: Supplementary_Data1.xlsx › filter_by_duplicate
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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."