Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.V256M
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MBTPS2

NM_015884.4:p.V256M

Associated Papers

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

Strong A et al.

American Journal of Medical Genetics. Part A, 2022

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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."