Varaico: Literature-Extracted Genetic Variants

Gene:PYCR2
Variant:p.S247fs
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PYCR2

NM_013328.4:p.S247fs

Associated Papers

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T et al.

American Journal of Human Genetics, 2015

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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."