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Human Mutation|July 9, 2019
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseEmily Gardner, Mitch Bailey, Angela Schulz, et al.
Human Mutation|July 9, 2019
VIPdb, a genetic Variant Impact Predictor DatabaseZhiqiang Hu, Changhua Yu, Mabel Furutsuki, et al.
Human Mutation|July 9, 2019
Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palateLu Yun, Lan Ma, Meilin Wang, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Human Mutation|October 11, 2019
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variantsKoichiro Wasano, Satoe Takahashi, Samuel K Rosenberg, et al.
Human Mutation|June 28, 2019
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposesMariona Terradas, Pau M Munoz-Torres, Sami Belhadj, et al.
Human Mutation|February 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange networkChiara Rasi, Daniel Nilsson, Måns Magnusson, et al.
Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.
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