Varaico: Literature-Extracted Genetic Variants

Gene:BTN1A1
Variant:p.A46T
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BTN1A1

NM_001732.3:p.A46T

Associated Papers

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Kitzmüller C et al.

Human Molecular Genetics, 2008

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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."