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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFCAB6

Variant:p.S381Splc

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EFCAB6

NM_022785.4:p.S381Splc

hg38:chr22:43687465 A>T

Associated Papers

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.

Schrauwen I et al.

Genes, 2020

32585897 (PubMed )

Supplement: genes-11-00687-s001.zip › Table_S1.xlsx › Suppl_Table_1

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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."