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Mutation

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels

Chan Joo Lee, Yunbeom Lee, [ ... ], Sang-Hak Lee

The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan

Sonia Covaceuszach, Manuela Bozzi, [ ... ], Alberto Cassetta

Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, [ ... ], Jakob D. Wikstrom

Involvement of the Arg⁵⁶⁶ residue of Aeromonas sobria serine protease in substrate specificity

Hidetomo Kobayashi, Tadamune Otsubo, [ ... ], Hiroyasu Yamanaka

Role of the N-terminus for the stability of an amyloid-β fibril with three-fold symmetry

Christian A. Söldner, Heinrich Sticht, Anselm H. C. Horn

Comprehensive benchmarking of SNV callers for highly admixed tumor data

Regina Bohnert, Sonia Vivas, Gunther Jansen

Novel genes and mutations in patients affected by recurrent pregnancy loss

Paula Quintero-Ronderos, Eric Mercier, [ ... ], Paul Laissue

Performance of the Xpert MTB/RIF assay for the diagnosis of pulmonary tuberculosis and rifampin resistance in a low-incidence, high-resource setting

Jason P. Rice, Marva Seifert, Kathleen S. Moser, Timothy C. Rodwell

Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans

Ensel Oh, Hae Min Jeong, [ ... ], Young Kee Shin

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

Pi-Lin Sung, Kuo-Chang Wen, [ ... ], Chi-Ying F. Huang

The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, [ ... ], Michael V. Filatov

SWI/SNF Infobase—An exclusive information portal for SWI/SNF remodeling complex subunits

Udayakumar Mani, Alagu Sankareswaran S., Arun Goutham R. N., Suma Mohan S.

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