Varaico: Literature-Extracted Genetic Variants

Gene:GALNT5
Variant:p.D678A
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GALNT5

NM_014568.3:p.D678A

Associated Papers

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.

Dilliott AA et al.

American Journal of Medical Genetics. Part A, 2020

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat5

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

A glycogene mutation map for discovery of diseases of glycosylation.

Hansen L et al.

Glycobiology, 2015

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."