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A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

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Bibliographic Details
Title:	A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
Authors:	Shahid H; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Shakoor N; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Bibi A; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Qazi AS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Saeed RF; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Nawaz A; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Malik S; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Mumtaz S; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Source:	The Yale journal of biology and medicine [Yale J Biol Med] 2023 Sep 29; Vol. 96 (3), pp. 383-396. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).
Publication Type:	Case Reports; Journal Article; Review
Journal Info:	Publisher: Yale Journal of Biology and Medicine Country of Publication: United States NLM ID: 0417414 Publication Model: eCollection Cited Medium: Internet ISSN: 1551-4056 (Electronic) Linking ISSN: 00440086 NLM ISO Abbreviation: Yale J Biol Med Subsets: MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	1551-4056
DOI:	10.59249/UTCP9818