Results 251 to 260 of about 202,059 (264)

Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel

Gene, 2023
Yael Goldberg, Lina Basel-Salmon, Naama Orenstein   +2 more
exaly  

Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Genes, 2020
Kimberly Andreaggi, Walther Parson, Charla Marshall   +2 more
exaly  

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

European Journal of Medical Genetics, 2017
Hope Northrup, David Rodriguez-Buritica   +1 more
exaly  

A founder CHEK2 pathogenic variant in association with kidney cancer

Cancer Genetics, 2022
exaly  

Computational assessment of feature combinations for pathogenic variant prediction

Molecular Genetics & Genomic Medicine, 2016
Johannes Rainer, FRANCISCO Domingues
exaly  

Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature

International Journal of Ophthalmology, 2023
exaly  

Case report: Novel germline c.587delA pathogenic variant in familial multiple endocrine neoplasia type 1

Frontiers in Endocrinology
Fan Zhen
exaly  

Alphamissense Predictive of Pathogenic Protein Variants

American Journal of Medical Genetics Part A
openaire   +2 more sources

Pathogenic variants and secondary results

Nature Genetics, 2014
openaire   +1 more source

CHAPTER 7. The pathogenicity of the variants

Acta Pathologica Microbiologica Scandinavica, 1948
openaire   +1 more source