Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer
2023-09-01
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| Series: | Chinese Medical Journal |
| Online Access: | http://journals.lww.com/10.1097/CM9.0000000000002285 |
| _version_ | 1827854590373003264 |
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| author | Cong Zhou Xing Wei Yuanyuan Xiao Shanling Liu Jing Wang Jing Ni |
| author_facet | Cong Zhou Xing Wei Yuanyuan Xiao Shanling Liu Jing Wang Jing Ni |
| author_sort | Cong Zhou |
| collection | DOAJ |
| first_indexed | 2024-03-12T11:24:52Z |
| format | Article |
| id | doaj.art-23bb37f4194b4ce4b2ea7d41318230f5 |
| institution | Directory Open Access Journal |
| issn | 0366-6999 2542-5641 |
| language | English |
| last_indexed | 2024-03-12T11:24:52Z |
| publishDate | 2023-09-01 |
| publisher | Wolters Kluwer |
| record_format | Article |
| series | Chinese Medical Journal |
| spelling | doaj.art-23bb37f4194b4ce4b2ea7d41318230f52023-09-01T09:41:52ZengWolters KluwerChinese Medical Journal0366-69992542-56412023-09-01136172107210910.1097/CM9.0000000000002285202309050-00012Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansionCong ZhouXing WeiYuanyuan XiaoShanling LiuJing WangJing Nihttp://journals.lww.com/10.1097/CM9.0000000000002285 |
| spellingShingle | Cong Zhou Xing Wei Yuanyuan Xiao Shanling Liu Jing Wang Jing Ni Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion Chinese Medical Journal |
| title | Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion |
| title_full | Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion |
| title_fullStr | Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion |
| title_full_unstemmed | Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion |
| title_short | Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion |
| title_sort | novel compound heterozygous variants in lectin mannose binding 2 like gene identified in a chinese autosomal recessive mental retardation 52 mrt52 patient with phenotype expansion |
| url | http://journals.lww.com/10.1097/CM9.0000000000002285 |
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