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Article

A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.

American journal of medical genetics. Part A - 1 Feb 2026

White-Brown Alexandre, Marshall Aren, Wang Xueqi, Tran Minh, Keays Tara, Dyment David A

Abstract excerpt

We report a family with multiple individuals with pulmonary fibrosis of variable severity, age of onset, and clinical characteristics. Initial clinical investigations of the proband identified a splice-region variant of uncertain significance (VUS; NM_032957.4: c.3181 + 3A>C) in RTEL1. Telomere studies showed shortened telomeres (10th percentile). Family studies and functional analyses (mRNA studies and Western...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40985209
DOI: 10.1002/ajmg.a.64267

Genes

RTEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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