Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A3
Variant:p.R251W
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SLC45A3

NM_033102.3:p.R251W

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 › 1696.600

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 2012

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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."