Varaico: Literature-Extracted Genetic Variants

Gene:MUC4
Variant:p.V3742A
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MUC4

NM_018406.7:p.V3742A

Associated Papers

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Simultaneous evolutionary expansion and constraint of genomic heterogeneity in multifocal lung cancer.

Ma P et al.

Nature Communications, 2017

29018192 (PubMed )
Supplement: 41467_2017_963_MOESM2_ESM.xlsx › Supplementary_Data_1

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
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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."