Varaico: Literature-Extracted Genetic Variants

Gene:EFL1
Variant:p.K14I
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EFL1

NM_024580.6:p.K14I

Associated Papers

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.

Wei R et al.

Frontiers in Genetics, 2025

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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."