Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.G41R
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RSPH1

NM_080860.4:p.G41R

Associated Papers

Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease.

Liu X et al.

Molecular Medicine Reports, 2025

40376972 (PubMed )
Supplement: Supplementary_Data2.pdf

Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.

Tate G

Medical Molecular Morphology, 2021

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.xlsx › Sheet1
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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."