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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCAF8L2

Variant:p.V429_G434del6

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DCAF8L2

NM_001353450.2:p.V429_G434del6

hg38:chrX:27748179 TGTGTACAGCCACGATGGC>T

Associated Papers

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Niu Z et al.

Plos One, 2017

28542515 (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."