Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.

Hum Mutat

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Published: October 2021

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http://dx.doi.org/10.1002/humu.24268	DOI Listing

Publication Analysis

fumarate hydratase

hydratase c1431_1433dupaaa

c1431_1433dupaaa plys477dup

plys477dup variant

variant associated

associated protein

protein deficiency

deficiency increased

increased 2sc

2sc separate

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