Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F48C
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SDS

NM_006843.3:p.F48C

Associated Papers

Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.

Roy S et al.

Molecular Endocrinology (baltimore, Md.), 2011

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY et al.

Biochemical and Biophysical Research Communications, 2010

Phage display based identification of novel stabilizing mutations in glycosyl hydrolase family 11 B. subtilis endoxylanase XynA.

Beliën T et al.

Biochemical and Biophysical Research Communications, 2008

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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."