Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.R116fs
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PYCR1

NM_006907.4:p.R116fs

Associated Papers

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Shangguan S et al.

Molecular Genetics and Genomics : Mgg, 2024

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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."