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A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.
- Published in:
- 2022
- By:
- Publication type:
- Letter
A SAMD5–SASH1 fusion in solitary infantile myofibromatosis.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 6, p. 1, doi. 10.1002/pbc.30278
- By:
- Publication type:
- Article
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0046-x
- By:
- Publication type:
- Article