Paper Details

Paper Title

Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.

Paper Journal Title

NPJ Genom Med

Paper Citation Count

Paper Publication Year

2021

Bio Mention

A, ClinVar, ClinVar ID, DNAJB6, DnaJ homolog subfamily B member 6, GBA, GBA variant, GBA variants, GBA-PD, GBA-associated Parkinson's disease, GBA1, GBA1 variant, GBA1 variants, HSP70, PD, PSAP, PSAP proteins, Parkinson's disease, alpha synucleinopathy, alpha-synuclein, beta-glucocerebrosidase gene, idiopathic PD, p.L444P, patients, prosaposin, rare variants, reporter

Mesh Descriptor

Author Name	Affiliation
Nagarajan Paramasivam	Heidelberg Center for Personalized Oncology (DKFZ-HIPO), German Cancer Research Center (DKFZ)
Roland Eils	Center for Digital Health, Berlin Institute of Health and Charite Universitatsmedizin Berlin
Roland Eils	University of Heidelberg
Roland Eils	Center for Digital Health, Berlin Institute of Health and Charite Universitatsmedizin Berlin
Roland Eils	University of Heidelberg
Matthias Schlesner	German Cancer Research Center (DKFZ)
Matthias Schlesner	German Cancer Research Center (DKFZ)
Rebecca C Wade	Heidelberg Institute of Theoretical Studies (HITS)
Rebecca C Wade	Center for Molecular Biology of the University of Heidelberg (ZMBH), and Interdisciplinary Center for Scientific Computing (IWR)
Rebecca C Wade	Heidelberg Institute of Theoretical Studies (HITS)
Rebecca C Wade	Center for Molecular Biology of the University of Heidelberg (ZMBH), and Interdisciplinary Center for Scientific Computing (IWR)

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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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