Varaico: Literature-Extracted Genetic Variants

Gene:AMPH
Variant:p.R48W
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AMPH

NM_001635.4:p.R48W

Associated Papers

Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Corpas M et al.

Bmc Genomics, 2015

26547235 (PubMed )
Supplement: 12864_2015_1973_MOESM3_ESM.xls › TableS2-57Variants

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
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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."