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Journal of Molecular Diagnostics, ISSN 1525-1578, 11/2018, Volume 20, Issue 6, pp. 789 - 801
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary... 
MOLECULAR-PATHOLOGY | NONSYNDROMIC HEARING IMPAIRMENT | INNER-EAR | GENOMIC STRUCTURE | ENDOTHELIN-3 GENE | AMERICAN-COLLEGE | HAIR CELL STEREOCILIA | HIRSCHSPRUNG DISEASE | PATHOLOGY | AUTOSOMAL RECESSIVE DEAFNESS | WAARDENBURG SYNDROME TYPE-2
Journal Article
GENES & DEVELOPMENT, ISSN 0890-9369, 08/2019, Volume 33, Issue 15-16, pp. 983 - 1007
All transcription factors are equal, but some are more equal than others. In the 25 yr since the gene encoding the microphthalmia-associated transcription... 
transcription factor | MiT family | melanoma | PIGMENT CELL | MITF | DEVELOPMENTAL BIOLOGY | MICROPHTHALMIA GENE-PRODUCT | BETA-CATENIN | WAARDENBURG SYNDROME TYPE-2 | TRANSCRIPTION FACTOR MITF | CELL BIOLOGY | melanocytes | MELANOCYTE-STIMULATING HORMONE | GENETICS & HEREDITY | STEM-CELL FACTOR | GROWTH-FACTOR | NEURAL CREST | MASTER REGULATOR
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