A recent study identifies a frameshift variant in the FAM129C gene that contributes to achalasia via B cell responses against the GABA(A) receptor. This discovery enhances understanding of the genetic factors involved in achalasia.
frameshift variant in fam129c contributes to achalasia through b cell responses against the gaba a receptor
Original title: “A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABA(A) receptor.”