Publications:

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma.

Melanoma Research

Hintzsche, Jennifer D JD; Gorden, Nicholas T NT; Amato, Carol M CM; Kim, Jihye J; Wuensch, Kelsey E KE; Robinson, Steven E SE; Applegate, Allison J AJ; Couts, Kasey L KL; Medina, Theresa M TM; Wells, Keith R KR; Wisell, Joshua A JA; McCarter, Martin D MD; Box, Neil F NF; Shellman, Yiqun G YG; Gonzalez, Rene C RC; Lewis, Karl D KD; Tentler, John J JJ; Tan, Aik Choon AC; Robinson, William A WA

Publication Date: 2017-06

Variant appearance in text: NF1: A1785S

PubMed Link: 28296713

Variant Present in the following documents:

• cmr-27-189.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NF1: A1785S; rs199474782

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: A1785S

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page