PDZ domain-containing protein 7 isoform X1 [Homo sapiens]

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Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. [BMC Med Genomics. 2022]
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q, Sun Q, Gu X, Wang J, Li W, Guo L, Li H. BMC Med Genomics. 2022 Jun 17; 15(1):135. Epub 2022 Jun 17.
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans. [Int J Mol Sci. 2019]
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY, Han JH, Kim BJ, Oh SH, Lee S, Oh DY, Choi BY. Int J Mol Sci. 2019 Aug 26; 20(17). Epub 2019 Aug 26.
Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree. [Gene. 2019]
Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
Luo H, Hassan RN, Yan J, Xie J, Du P, Hu Q, Zhu Y, Jiang W. Gene. 2019 Aug 15; 709:65-74. Epub 2019 May 23.

RefSeq genomic sequence
See the genomic reference sequence for the PDZD7 gene (NG_028030.1).
RefSeq mRNA
See reference mRNA sequence for the PDZD7 gene (XM_011540177.4).
RefSeq protein isoforms
See 26 reference sequence protein isoforms for the PDZD7 gene.

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Ensembl [Ensembl]
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OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein