First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL. - Rodríguez-García ME; Cotrina-Vinagre FJ; Bellusci M; Hernández-Sánchez L; de Aragón AM; López-Laso E; Martín-Hernández E; Martínez-Azorín F (Human mutation, 2022)