zinc finger HIT domain-containing protein 3 isoform 2 [Homo sapiens]

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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. [Mol Cell Endocrinol. 2024]
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Brakta S, Du Q, Chorich LP, Hawkins ZA, Sullivan ME, Ko EK, Kim HG, Knight J, Taylor HS, Friez M, et al. Mol Cell Endocrinol. 2024 Aug 1; 589:112237. Epub 2024 Apr 8.
PEHO and PEHO-like syndromes: report of five Australian cases. [Am J Med Genet A. 2003]
PEHO and PEHO-like syndromes: report of five Australian cases.
Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Adès LC. Am J Med Genet A. 2003 Sep 15; 122A(1):6-12.
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. [Clin Dysmorphol. 2003]
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
Longman C, Tolmie J, McWilliam R, MacLennan A. Clin Dysmorphol. 2003 Apr; 12(2):133-6.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the ZNHIT3 gene.

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NP_001268361 [Domain Mapping of Disease Mut...]
NP_001268361
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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