Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.A146V
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TBCC

NM_003192.3:p.A146V

Associated Papers

Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.

Shankar SP et al.

Ophthalmic Genetics, 2022

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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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."