Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.V1110I
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ABCA13

NM_152701.5:p.V1110I

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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