Varaico: Literature-Extracted Genetic Variants

Gene:SRRM2
Variant:p.S1258_E1259del2
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SRRM2

NM_016333.4:p.S1258_E1259del2

Associated Papers

Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

Regan-Fendt KE et al.

American Journal of Medical Genetics. Part A, 2023

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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."