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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
CELL BIOLOGY OF CARDIAC AND SKELETAL MUSCLE
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.
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Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.
Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans. PLoS Genet. 2016 Dec; 12(12):e1006489.
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PubMed
subject areas
Alleles
Amino Acid Substitution
Animals
Base Sequence
Chromosome Mapping
DNA Methylation
Exome
Gene Frequency
Genetics, Population
Humans
Mutation
Mutation Rate
Phylogeny
Pongo
Primates
Selection, Genetic
authors with profiles
Jonathan K. Pritchard