Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.Q153K
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COL7A1

NM_000094.4:p.Q153K

Associated Papers

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

Jewell BE et al.

Plos Genetics, 2021

34965247 (PubMed )
Supplement: pgen.1009971.s006.xlsx › RTS-B2_iPSC_vs_RTS-B_fibroblast
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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."