Varaico: Literature-Extracted Genetic Variants

Gene:ACOXL
Variant:p.C469*
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ACOXL

NM_001142807.4:p.C469*

Associated Papers

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Waller RG et al.

Human Molecular Genetics, 2021

33751038 (PubMed )
Supplement: hmg-2020-am-00763_waller_stables_ddab066.xlsx › STable_II

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."