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Human Mutation|July 2, 2016
Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII ActionAnne Thomas, Arijit Biswas, Johannes Dodt, et al.
Human Mutation|June 21, 2016
Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell CarcinomaTara T Doucet-O'Hare, Reema Sharma, Nemanja Rodić, et al.
Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, et al.
Human Mutation|November 10, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunctionLiesbeth T M Wintjes, Maina Kava, Frans A van den Brandt, et al.
Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Human Mutation|September 9, 2020
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypesMomoko Nagai-Tanima, Sungkook Hong, Ping Hu, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
Human Mutation|September 9, 2020
Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfoldingBrett M Cassidy, Sammy Zino, Karianne Fjeld, et al.
Human Mutation|September 9, 2020
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatmentRoxanne L Simmons, Haiyan Li, Baris Alten, et al.
Human Mutation|September 9, 2020
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontiaLiutao Zhang, Miao Yu, Sing-Wai Wong, et al.
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