Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.Q93*
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GEMIN4

NM_015721.3:p.Q93*

Associated Papers

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Johnson MA et al.

Neurobiology of Disease, 2022

35405261 (PubMed )
Supplement: NIHMS1812088-supplement-1.pdf

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Structural and functional deviations in disease-associated p97 mutants.

Tang WK et al.

Journal of Structural Biology, 2012

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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."