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Article

Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2011

Chen Neng, Schrijver Iris

Abstract excerpt

PURPOSE: : To distinguish the cis-trans relationship of two sequence changes and to arrive at an accurate molecular diagnosis for autosomal recessive disorders, methods such as Sanger sequencing cannot differentiate whether sequence changes are in cis or trans. In addition, most techniques theoretically appropriate for allelic discrimination depend on the specific identified sequence changes for assay design,...

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Source

Identifiers

PMID: 21836520
DOI: 10.1097/GIM.0b013e3182272e0b

Genes

CFTR
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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