Varaico: Literature-Extracted Genetic Variants

Gene:THOC5
Variant:p.V525I
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THOC5

NM_003678.5:p.V525I

Associated Papers

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

Simpson CL et al.

Bmc Medical Genetics, 2019

30704416 (PubMed )
Supplement: 12881_2019_752_MOESM4_ESM.xlsx › Sheet1

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3H

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
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