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Article

Variants in RABL2A causing male infertility and ciliopathy.

Human molecular genetics - 18 Dec 2020

Ding Xinbao, Fragoza Robert, Singh Priti, Zhang Shu, Yu Haiyuan, Schimenti John C

Abstract excerpt

Approximately 7% of men worldwide suffer from infertility, with sperm abnormalities being the most common defect. Though genetic causes are thought to underlie a substantial fraction of idiopathic cases, the actual molecular bases are usually undetermined. Because the consequences of most genetic variants in populations are unknown, this complicates genetic diagnosis even after genome sequencing of patients. Some...

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Identifiers

PMID: 33075816
DOI: 10.1093/hmg/ddaa230
PMCID: PMC7749704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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