Varaico: Literature-Extracted Genetic Variants

Gene:QPCT
Variant:p.R88R
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QPCT

NM_012413.4:p.R88R

Associated Papers

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Matsuura T et al.

Human Genetics, 1993

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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."