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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HELB

Variant:p.L221R

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HELB

NM_001370285.1:p.L221R

hg38:chr12:66306399 T>G

Associated Papers

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

30315159 (PubMed )

Supplement: 41467_2018_6713_MOESM5_ESM.xlsx › Supplementary_Data_2

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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."