(PDF) Missense Mutations of the Pro65 Residue of PCGF2

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.11.009

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.11.009

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Related search

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Investigating the Effects of Missense Mutations in MSH2 Gene Associated With Lynch Syndrome

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Long-Qt Syndrome-Associated Missense Mutations in the Pore Helix of the HERG Potassium Channel

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Down Syndrome as a Cause of Abnormalities in the Craniofacial Region: A Systematic Literature Review