A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

Subjects: “…atypical splice mutation…”
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Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

Subjects: “…splicing mutations…”
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