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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN5

Variant:p.R2141W

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SPTBN5

NM_016642.4:p.R2141W

hg38:chr15:41867018 G>A

Associated Papers

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Ungar RA et al.

American Journal of Medical Genetics. Part A, 2018

29696773 (PubMed )

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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."