Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT1
Variant:p.R102W
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COLGALT1

NM_024656.4:p.R102W

Associated Papers

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Cho BPH et al.

Journal of the American Heart Association, 2024

39082428 (PubMed )
Supplement: JAH3-13-e035771-s001.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
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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."