Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: NF1: 3641_3643del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

The Journal Of Biological Chemistry

Hirata, Yasuko Y; Brems, Hilde H; Suzuki, Mayu M; Kanamori, Mitsuhiro M; Okada, Masahiro M; Morita, Rimpei R; Llano-Rivas, Isabel I; Ose, Toyoyuki T; Messiaen, Ludwine L; Legius, Eric E; Yoshimura, Akihiko A

Publication Date: 2016-02-12

Variant appearance in text: NF1: Met1215del

PubMed Link: 26635368

Variant Present in the following documents:

• Main text

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