Varaico: Literature-Extracted Genetic Variants

Gene:TREML1
Variant:p.R53Q
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TREML1

NM_178174.4:p.R53Q

Associated Papers

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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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."