Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.H243R
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PYCR1

NM_006907.4:p.H243R

Associated Papers

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Ritelli M et al.

Journal of Dermatological Science, 2017

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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."