Robuta

https://publicatt.unicatt.it/handle/10807/190392 Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature... pathogenic variantbreast cancersurgicalmanagementbrca https://research.regionh.dk/da/publications/surveillance-recommendations-for-dicer1-pathogenic-variant-carrie/fingerprints/ Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host... pathogenic variantfrom thesurveillancerecommendationscarriers https://iris.unito.it/handle/2318/1840046 A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic... a newpathogenic variantcasesmithsyndrome https://experts.arizona.edu/en/publications/very-low-vitamin-d-in-a-patient-with-a-novel-pathogenic-variant-i/ Very Low Vitamin D in a Patient with a Novel Pathogenic Variant in the GC Gene That Encodes Vitamin... very lowvitamin dpathogenic variantthe gcpatient https://genebe.net/variant/hg38/chr5-112792444-A-C Genetic Variant APC:c.646-2AC (chr5-112792444-A-C) – ACMG Classification: Pathogenic (12 pts) |... See ACMG classification (Pathogenic, 12) for this variant. Access annotations from ClinVar, UniProt, GnomAD, and more — all gathered in one place with GeneBe genetic variantapcacmgclassificationpathogenic https://genebe.net/variant/hg38/5-112792444-A-T Genetic Variant APC:c.646-2AT (chr5-112792444-A-T) – ACMG Classification: Likely_pathogenic (8... See ACMG classification (Likely_pathogenic, 8) for this variant. Access annotations from ClinVar, UniProt, GnomAD, and more — all gathered in one place with... genetic variantapcacmgclassificationlikely