Varaico: Literature-Extracted Genetic Variants

Gene:MUC4
Variant:p.S2704P
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MUC4

NM_018406.7:p.S2704P

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

Identification of HLA class I-restricted immunogenic neoantigens in triple negative breast cancer.

Aparicio B et al.

Frontiers in Immunology, 2022

36405725 (PubMed )
Supplement: Table_1.xlsx › P85

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Yang L et al.

Bmc Medical Genetics, 2017

28724398 (PubMed )
Supplement: 12881_2017_418_MOESM6_ESM.xlsx › Final_1.xls

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

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."