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Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Klinische Padiatrie - 1 Sept 2021

Meyer Sascha, Meyberg-Solomayer Gabriele, König Rainer, Geuer Sinje, Geipel Martina, Nourkami-Tutdibi Nasesien, Oehl-Jaschkowitz Barbara, Lindner Ulrike, Marquardt Thorsten

Abstract excerpt

No abstract is available from the source.

Topics

Exome
Humans
Infant, Newborn
Mutation
Pedigree
Exome Sequencing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34102701
DOI: 10.1055/a-1481-9016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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