The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA
Abstract Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics. Methods We performed high-depth next-generation targeted sequencing using a custom-ordered &...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
BMC,
2019-05-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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