Varaico: Literature-Extracted Genetic Variants

Gene:LRPAP1
Variant:p.R113H
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LRPAP1

NM_002337.4:p.R113H

Associated Papers

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.

Tise CG et al.

G3 (bethesda, Md.), 2016

27412988 (PubMed )
Supplement: supp_g3.116.032979_TableS4.pdf

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Sequencing of the entire coding region of the receptor associated protein (RAP) in patients with primary hypothyroidism of unknown origin.

Lisi S et al.

Journal of Endocrinological Investigation, 2007

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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."