Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.S90L
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KHDRBS1

NM_006559.3:p.S90L

Associated Papers

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

The expanding genetic landscape of hereditary motor neuropathies.

Beijer D et al.

Brain : a Journal of Neurology, 2020

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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."