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Article

SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Oct 2024

Sethi Shruti, Mehta Poonam, Andrabi Waseem, Mitra Kalyan, Rajender Singh

Abstract excerpt

The present study aimed at identifying the genetic mutation responsible for teratozoospermic infertility in a case with coiled sperm tails. A 33-year-old infertile male was diagnosed with teratozoospermic infertility, with sperm head in coiled (HIC) tail as the most common deformity. We employed whole exome sequencing to identify the genetic cause in this case. Exome sequencing data was filtered using the...

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Source

Identifiers

PMID: 38886283
DOI: 10.1007/s43032-024-01612-w

Genes

SPEM1
MAF

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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