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Heterozygous ZNHIT3 Variants Within the 17q12 Recurrent Deletion Region Are Associated with Mayer-Rokitansky-Kuster Hauser (MRKH) Syndrome

Soumia Brakta, Quansheng Du,Lynn P. Chorich,Zoe A. Hawkins,Megan E. Sullivan,Eun Kyung Ko,Hyung-Goo Kim,James Knight,Hugh S. Taylor,Michael Friez,John A. Phillips,Lawrence C. Layman

MOLECULAR AND CELLULAR ENDOCRINOLOGY（2024）

Cited 1|Views25
Key words
Mayer-Rokitansky-Kuster Hauser,ZNHIT3,Pathogenic variants,Next generation sequencing,Mullerian aplasia,Nonsense-mediated mRNA decay
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