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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54.
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PubMed
subject areas
Abnormalities, Multiple
Amino Acid Motifs
Databases, Genetic
Gene Expression
Haploinsufficiency
Hearing Loss
Humans
Intellectual Disability
Mandibulofacial Dysostosis
Microcephaly
Models, Molecular
Molecular Sequence Data
Mutation
Penetrance
Peptide Elongation Factors
Phenotype
Protein Structure, Secondary
Protein Structure, Tertiary
Ribonucleoprotein, U5 Small Nuclear
RNA Splicing
Spliceosomes
authors with profiles
William B. Dobyns