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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD164

Variant:p.S2insFs

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CD164

NM_006016.6:p.S2insFs

hg38:chr6:109382372 G>GC

Associated Papers

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Wesdorp M et al.

Human Genetics, 2018

29754270 (PubMed )

Supplement: 439_2018_1880_MOESM1_ESM.docx

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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."