Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPA1
Variant:p.N320I
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HNRNPA1

NM_031157.4:p.N320I

Associated Papers

Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.

Chompoopong P et al.

Annals of Clinical and Translational Neurology, 2023

A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.

Chompoopong P et al.

Neuromuscular Disorders : Nmd, 2022

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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."