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Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
2021
Aixa Gonzalez
Sunaina Kapur
Matthew B. Walsh
Jaime Vengoechea
Keywords:
Genetics
Missense mutation
MED12
Biology
Phenotype
Correction
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