Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.L2325fs
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SPEN

NM_015001.3:p.L2325fs

Associated Papers

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

He Y et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026

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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."