Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.A189V
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PYCR1

NM_006907.4:p.A189V

Associated Papers

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

Vahidnezhad H et al.

The Journal of Investigative Dermatology, 2017

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B et al.

Nature Genetics, 2009

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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."