Varaico: Literature-Extracted Genetic Variants

Gene:SORT1
Variant:p.G171A
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SORT1

NM_002959.7:p.G171A

Associated Papers

Genomic Markers for Essential Tremor.

Jiménez-Jiménez FJ et al.

Pharmaceuticals (basel, Switzerland), 2021

Mechanism underlying the regulation of sortilin expression and its trafficking function.

Ouyang S et al.

Journal of Cellular Physiology, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

[Essential tremor: genetic update].

Deng H et al.

Expert Reviews in Molecular Medicine, 2019

Copy number variation of LINGO1 in familial dystonic tremor.

Alakbarzade V et al.

Neurology. Genetics, 2019

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

Sánchez E et al.

Asn Neuro, 0

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