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List of works by Vandana Shashi

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

scientific article published on 05 May 2020

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

scientific article published on 23 October 2020

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

scientific article published on 05 May 2019

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