Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.D222_R228delFs
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ESRP1

NM_017697.4:p.D222_R228delFs

Associated Papers

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

da Silva CC et al.

Biorxiv : the Preprint Server for Biology, 2024

39005284 (PubMed )
Supplement: media-1.docx

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Rohacek AM et al.

Developmental Cell, 2017

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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."