Varaico: Literature-Extracted Genetic Variants

Gene:PIMREG
Variant:p.A223D
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PIMREG

NM_019013.3:p.A223D

Associated Papers

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29300383 (PubMed )
Supplement: NIHMS922117-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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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."