Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.P177T
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SOHLH1

NM_001101677.2:p.P177T

Associated Papers

Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.

Uddin I et al.

Molecular Genetics and Genomics : Mgg, 2024

The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.

Liu M et al.

Human Molecular Genetics, 2022

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

Zhao S et al.

Fertility and Sterility, 2015

Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.

Song B et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2015

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Choi Y et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."