Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS1
Variant:p.R134C
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MBTPS1

NM_003791.4:p.R134C

Associated Papers

Genetic Disorders of the Extracellular Matrix.

Lamandé SR et al.

Anatomical Record (hoboken, N.j. : 2007), 2020

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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."