Varaico: Literature-Extracted Genetic Variants

Gene:KAZALD1
Variant:p.G255A
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KAZALD1

NM_030929.5:p.G255A

Associated Papers

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA et al.

Human Molecular Genetics, 2022

35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

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-A2-A04Y-01A.domain
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