A recent study identifies a variant in the ABHD14A gene linked to suspected aminoacylase 1 deficiency. This discovery may enhance understanding of the genetic factors contributing to this rare condition.
variant in abhydrolase domain containing 14a abhd14a and the suspicion of aminoacylase 1 acy1 deficiency
Original title: “A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency.”