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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB126

Variant:p.Q55fs

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DEFB126

NM_030931.4:p.Q55fs

hg38:chr20:145519 C>CN

Associated Papers

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )

Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )

Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants

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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."