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Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report. [PDF]

BMC Med Genomics
Gu C, Cui Q, Luo W, Zhang S, Shu J, Chen S. +5 more
europepmc +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source

Correction to 'Immunopipe: a comprehensive and flexible scRNA-seq and scTCR-seq data analysis pipeline'. [PDF]

NAR Genom Bioinform
europepmc +1 more source

Consideration of tumor genomics in the management of synchronous colorectal liver metastases. [PDF]

Surg Open Sci
Foster DS, D'Angelica MI.
europepmc +1 more source

Protocol for single-cell spatial transcriptomic profiling of cultured cells and engineered tissues without embedding or sectioning. [PDF]

STAR Protoc
Helms HR, Bertassoni LE.
europepmc +1 more source

Correction: Mapping-based genome size Estimation. [PDF]

BMC Genomics
Natarajan S, Gehrke J, Pucker B.
europepmc +1 more source

Correction for Deaven et al., "<i>Salmonella</i> Genomics and Population Analyses Reveal High Inter- and Intraserovar Diversity in Freshwater". [PDF]