Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3L
Variant:p.E26*
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ATXN3L

NM_001135995.2:p.E26*

Associated Papers

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW et al.

Journal of Molecular Modeling, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

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