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Article

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.

American journal of human genetics - 2 Jan 2020

Schilit Samantha L P, Menon Shreya, Friedrich Corinna, Kammin Tammy, Wilch Ellen, Hanscom Carrie, Jiang Sizun, Kliesch Sabine, Talkowski Michael E, Tüttelmann Frank, MacQueen Amy J, Morton Cynthia C

Abstract excerpt

Unexplained infertility affects 2%-3% of reproductive-aged couples. One approach to identifying genes involved in infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal aberration (BCA). While BCAs may reduce fertility by production of unbalanced gametes, a chromosomal rearrangement may also disrupt or dysregulate genes important in fertility. One such subject, DGAP230,...

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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: 31866047
DOI: 10.1016/j.ajhg.2019.11.013
PMCID: PMC7042487

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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