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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBLN7

Variant:p.P123S

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FBLN7

NM_153214.3:p.P123S

hg38:chr2:112165132 C>T

Associated Papers

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

38328051 (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."