Paper Details

Paper Title

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2022

Bio Mention

CDD, CDKL5, CDKL5 transcript, Cyclin-dependent kinase-like 5, Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, NM_001037343, NM_003159, cerebral visual impairment, cognitive and motor impairments, epilepsy, last exon, nucleotides, predominant transcript, transcript NM_001323289, transcripts

Mesh Descriptor

Author Name	Affiliation
Anne O'Donnell-Luria	Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Boston Children's Hospital, Harvard Medical School
Anne O'Donnell-Luria	Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Boston Children's Hospital, Harvard Medical School
Mahshid S Azamian	Baylor College of Medicine
Seema R Lalani	Baylor College of Medicine
Seema R Lalani	Texas Children's Hospital

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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