Varaico: Literature-Extracted Genetic Variants

Gene:MUC12
Variant:p.P1117T
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MUC12

NM_001164462.2:p.P1117T

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.

Geyer FC et al.

Nature Communications, 2018

29739933 (PubMed )
Supplement: 41467_2018_4128_MOESM5_ESM.xlsx › Supplementary_Data_3

The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.

Brohl AS et al.

Scientific Reports, 2017

29118384 (PubMed )
Supplement: 41598_2017_15183_MOESM1_ESM.pdf

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.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."