Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.G45A
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IBA57

NM_001010867.4:p.G45A

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2018

29629531 (PubMed )
Supplement: jcn-14-248-s002.pdf

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2
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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."