Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R262C
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ECEL1

NM_004826.4:p.R262C

Associated Papers

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Wu J et al.

Orphanet Journal of Rare Diseases, 2024

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc8.xlsx › T4
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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."