Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.L444M
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COL8A2

NM_005202.4:p.L444M

Associated Papers

Long-read trio sequencing of individuals with unsolved intellectual disability.

Pauper M et al.

European Journal of Human Genetics : Ejhg, 2021

33257779 (PubMed )
Supplement: 41431_2020_770_MOESM3_ESM.xlsx › Table_S21
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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."