Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Q380*
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SGSH

NM_000199.5:p.Q380*

Associated Papers

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

Bibi A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024

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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."