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Human Mutation|June 12, 2008
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterationsEva Pros, Carolina Gómez, Thamar Martín, et al.
Human Mutation|August 27, 2019
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndromeLuna Laera, Giuseppe Punzi, Vito Porcelli, et al.
Human Mutation|September 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/BAdrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, et al.
Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Human Mutation|September 10, 2019
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculatureChantal Kerkhofs, Servi J C Stevens, Saul N Faust, et al.
Human Mutation|September 13, 2019
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in IndiaFrank X Donovan, Avani Solanki, Minako Mori, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Human Mutation|February 10, 2021
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defectsSarah J Beecroft, Marcos Ayala, George McGillivray, et al.
Human Mutation|February 10, 2021
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer-related genesHong Li, Shuixia Liu, Shuangying Wang, et al.
Human Mutation|February 10, 2021
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrumErfan Heidari, Alexander N Harrison, Ehsan Jafarinia, et al.
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