Paper Details

Paper Title

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2023

Bio Mention

7 Mb block, Chr7, MCPH, MCPH gene, PPP1R35, PPP1R35 variants, Protein phosphatase 1 regulatory subunit 35, Trp251Cysfs, a 3, absence, amino acids, c, canonical stop codon, complementary GC rich segments, complex, complex indel allele, downstream stop codon, exomes, fibroblasts, founder allele, global developmental delay, microcephaly, mutant PPP1R35, mutant mRNA, pachygyria, primary microcephaly, stop codon

Mesh Descriptor

Author Name	Affiliation
Zeynep Coban Akdemir	Baylor College of Medicine
Zeynep Coban Akdemir	School of Public Health, The University of Texas Health Science Center at Houston
Fritz J Sedlazeck	Baylor College of Medicine
Fritz J Sedlazeck	Baylor College of Medicine
Shalini N Jhangiani	Baylor College of Medicine
Shalini N Jhangiani	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine

1 - 23

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

1 - 15

Paper Details

Column Actions

Datasets