Varaico: Literature-Extracted Genetic Variants

Gene:EEFSEC
Variant:p.R443P
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EEFSEC

NM_021937.5:p.R443P

Associated Papers

EEFSEC deficiency underlies a human selenopathy with primary neurodevelopmental origins via midbrain-hindbrain hypoplasia.

Xia Z et al.

Hgg Advances, 2026

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.

Liu Z et al.

Journal of Neurodevelopmental Disorders, 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."