ORIGINAL ARTICLE
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development
Luciana R. MontenegroI,
, Antônio M. LerárioI,II, Miriam Y. NishiI, Alexander A.L. JorgeIII, Berenice B. MendoncaI
Corresponding author
I Unidade de Endocrinologia do Desenvolvimento / LIM42 / SELA, Disciplina de Endocrinologia, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR
II Division of Metabolism, Department of Internal Medicine, Endocrinology and Diabetes, University of Michigan, Ann Arbor, United States of America
III Unidade de Endocrinologia Genetica (LIM25), Disciplina de Endocrinologia, Faculdade de Medicina (FMUSP), Universidade de Sao Paulo, Sao Paulo, SP, BR
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