Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
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| Title: | Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome. |
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| Authors: | Kumar A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India., Rai S; Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, 151203, India., Kumar A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India., Dey C; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India., Chakraborty S; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India., Munshi A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India. anjana.munshi@cup.edu.in. |
| Source: | Molecular genetics and genomics : MGG [Mol Genet Genomics] 2026 Jun 16; Vol. 301 (1). Date of Electronic Publication: 2026 Jun 16. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1617-4623 |
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| DOI: | 10.1007/s00438-026-02466-4 |
