FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
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Full Title: Blood Adv
Abbreviation: Blood Adv
Country: Unknown
Publisher: Unknown
Language: N/A
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"Conflict-of-interest disclosure: A.R. obtained salary support from Rocket Pharmaceuticals. A.S. obtained partial salary support from, and is an advisor to, Rocket Pharmaceuticals. J.E.W. is an advisor to Rocket Pharmaceuticals. The remaining authors declare no competing financial interests."
"This study was supported by the 10.13039/100000002National Institutes of Health 10.13039/100000050National Heart, Lung, and Blood Institute (R01 HL120922; A.S.), the 10.13039/100000054National Cancer Institute (R01 CA204127; A.S.), and the 10.13039/100006108National Center for Advancing Translational Sciences (UL1 TR001866; R.M. and A.S.). A.S. was a Howard Hughes Faculty Scholar. This work was supported by the Intramural research program of the 10.13039/100000051National Human Genome Research Institute, 10.13039/100000002National Institutes of Health (R.R.-B., F.X.D., and S.C.C.)"
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Last Updated: Aug 05, 2025