Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.R251C
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PYCR1

NM_006907.4:p.R251C

Associated Papers

Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).

Patel SM et al.

Archives of Biochemistry and Biophysics, 2021

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Huang Z et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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."