Varaico: Literature-Extracted Genetic Variants

Gene:MRPL16
Variant:p.R199Q
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MRPL16

NM_017840.4:p.R199Q

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Budu-Aggrey A et al.

Annals of the Rheumatic Diseases, 2017

28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.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 › BC3_ERR166307

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain
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