Varaico: Literature-Extracted Genetic Variants

Gene:MUC6
Variant:p.T2030A
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MUC6

NM_005961.3:p.T2030A

Associated Papers

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants

Identification of PLX4032-resistance mechanisms and implications for novel RAF inhibitors.

Choi J et al.

Pigment Cell & Melanoma Research, 2014

24283590 (PubMed )
Supplement: pcmr0027-0253-SD5.pdf

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."