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Human Mutation|May 19, 2018
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findingsMeritxell Carrió, Bernat Gel, Ernest Terribas, et al.
Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.
Human Mutation|April 13, 2019
A snapshot of some pLI score pitfallsAlban Ziegler, Estelle Colin, David Goudenège, et al.
Human Mutation|June 12, 2019
Assessment of methods for predicting the effects of PTEN and TPMT protein variantsVikas Pejaver, Giulia Babbi, Rita Casadio, et al.
Human Mutation|October 19, 2012
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaMara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, et al.
Human Mutation|October 19, 2012
KDM6A point mutations cause Kabuki syndromeNoriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, et al.
Human Mutation|October 19, 2012
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutationByung Yoon Choi, Do-Hwan Kim, Taesu Chung, et al.
Human Mutation|August 10, 2022
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrestXiaomei Tong, Jiamin Jin, Zhanhong Hu, et al.
Human Mutation|November 9, 2022
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormalityJordan Eboreime, Soo-Kyung Choi, Song-Ro Yoon, et al.
Human Mutation|January 21, 2026
Systematic Pathway Screening via Integrated Machine Learning Identifies FOXO-Mediated Transcription Signature for Robust Immunotherapy Response Prediction in Non-Small Cell Lung CancerShuqi Wu, Chenxi Deng, Chaofan Fan, et al.
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