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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESPN

Variant:p.G264_E265del0

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ESPN

NM_031475.3:p.G264_E265del0

hg38:chr1:6440739 CGGGGAG>C

Associated Papers

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.

Ahmed ZM et al.

Journal of Medical Genetics, 2018

29572253 (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."