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Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Indian J Pediatr. 2023 Jun 19. doi: 10.1007/s12098-023-04652-3. Online ahead of print.
Indian J Pediatr. 2023.
PMID: 37335441
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S.
Srivastava P, et al. Among authors: r phadke s.
J Genet. 2016 Dec;95(4):905-909. doi: 10.1007/s12041-016-0715-1.
J Genet. 2016.
PMID: 27994189
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