Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.R148R
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ATAT1

NM_001413067.1:p.R148R

Associated Papers

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Buyse IM et al.

American Journal of Human Genetics, 2000

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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."