Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.Y1172_L1179del8
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MYO7A

NM_000260.4:p.Y1172_L1179del8

Associated Papers

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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-00017-Table_S23.xlsx › GATK

Ploidy-Seq: inferring mutational chronology by sequencing polyploid tumor subpopulations.

Malhotra A et al.

Genome Medicine, 2015

25729435 (PubMed )
Supplement: 13073_2015_127_MOESM2_ESM.pdf

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s008.xlsx › Sheet1
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