Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.R152Q
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ARSB

NM_000046.5:p.R152Q

Associated Papers

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Al-Hamed MH et al.

Human Genetics, 2022

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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."