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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. [electronic resource] by
- Abou Jamra, Rami
- Philippe, Orianne
- Raas-Rothschild, Annick
- Eck, Sebastian H
- Graf, Elisabeth
- Buchert, Rebecca
- Borck, Guntram
- Ekici, Arif
- Brockschmidt, Felix F
- Nöthen, Markus M
- Munnich, Arnold
- Strom, Tim M
- Reis, Andre
- Colleaux, Laurence
Producer: 20110817
In:
American journal of human genetics vol. 88
Availability: No items available.
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Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . [electronic resource] by
- Bauer, Peter
- Leshinsky-Silver, Esther
- Blumkin, Lubov
- Schlipf, Nina
- Schröder, Christopher
- Schicks, Julia
- Lev, Dorit
- Riess, Olaf
- Lerman-Sagie, Tally
- Schöls, Ludger
Producer: 20120522
In:
Neurogenetics vol. 13
Availability: No items available.
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