Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D14
Variant:p.L180V
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TBC1D14

NM_020773.3:p.L180V

Associated Papers

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A et al.

Bmc Musculoskeletal Disorders, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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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."