Varaico: Literature-Extracted Genetic Variants

Gene:AP4M1
Variant:p.F188S
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AP4M1

NM_004722.4:p.F188S

Associated Papers

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF et al.

Journal of Medical Genetics, 2018

29097605 (PubMed )
Supplement: jmedgenet-2017-104946supp001.pdf
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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."