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Article

Nomenclature for the description of human sequence variations.

Human genetics - 1 Jul 2001

den Dunnen J T, Antonarakis S E

Abstract excerpt

A nomenclature system has recently been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences. These nomenclature recommendations have now been largely accepted. However, current rules do not yet cover all types of mutations, nor do they cover more complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of...

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PMID: 11479744
DOI: 10.1007/s004390100505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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