Varaico: Literature-Extracted Genetic Variants

Gene:SCHIP1
Variant:p.R452*
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SCHIP1

NM_014575.4:p.R452*

Associated Papers

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N et al.

American Journal of Medical Genetics. Part A, 2019

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Elsaid MF et al.

Clinical Genetics, 2018

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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."