PSMC1 variant causes a novel neurological syndrome
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DOI: 10.1111/cge.14195
Abstract: Proteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. It is composed of the 20S core particle and one or two 19S regulatory particles, composed of a base and a lid.… read more here.
Keywords: psmc1; psmc1 variant; variant causes; causes novel ... See more keywords
A Nine‐Nucleotide Insertion Causes the Novel HLA‐C*06:402 Allele in a Family Detected by Next‐Generation Sequencing
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DOI: 10.1111/tan.70352
Abstract: HLA‐C*06:402 differs from HLA‐C*06:02:01:01 by a nine‐nucleotide (TCCTGGCTG) insertion in exon 5. read more here.
Keywords: nine nucleotide; causes novel; insertion causes; nucleotide insertion ... See more keywords