Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.R170C
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MRPS22

NM_020191.4:p.R170C

Associated Papers

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson CB et al.

Human Molecular Genetics, 2019

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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."