Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31A3
Variant:p.E950D
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SPATA31A3

NM_001083124.1:p.E950D

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Somatic mutation driven codon transition bias in human cancer.

Son H et al.

Scientific Reports, 2017

Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Brown D et al.

Nature Communications, 2017

28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__3_92
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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."