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Article

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Human molecular genetics - 15 Oct 2013

Shinde Deepali N, Elmer Dominik P, Calabrese Peter, Boulanger Jérôme, Arnheim Norman, Tiemann-Boege Irene

Abstract excerpt

There are certain de novo germline mutations associated with genetic disorders whose mutation rates per generation are orders of magnitude higher than the genome average. Moreover, these mutations occur exclusively in the male germ line and older men have a higher probability of having an affecte...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23740942
DOI: 10.1093/hmg/ddt260
PMCID: PMC3781639

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23740942-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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