Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.D239N
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PSAP

NM_002778.4:p.D239N

Associated Papers

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Kawana M et al.

Frontiers in Physiology, 2022

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Controlling load-dependent kinetics of β-cardiac myosin at the single-molecule level.

Liu C et al.

Nature Structural & Molecular Biology, 2018

The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Nag S et al.

Nature Structural & Molecular Biology, 2017

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP et al.

Circulation. Cardiovascular Genetics, 2009

MgATP binding and hydrolysis determinants of NtrC, a bacterial enhancer-binding protein.

Rombel I et al.

Journal of Bacteriology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."