Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.L175fs
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AP4M1

NM_004722.4:p.L175fs

Associated Papers

Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.

Francisco S et al.

Protein Science : a Publication of the Protein Society, 2025

39723768 (PubMed )
Supplement: PRO-34-e70006-s001.docx

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.

Bellad A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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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."