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Wiley, Human Mutation: Variation, Informatics and Disease, 1(41), p. 299-315, 2019

DOI: 10.1002/humu.23929

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Journal article published in 2019 by Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald G. Basel, Mario Bengala, James T. Bennett and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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