Homo sapiens MU-MB-20.220 mRNA, partial cds

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Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. [Mol Vis. 2024]
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.
Seo Y, Joo K, Lee J, Diaz A, Jang S, Cherry TJ, Bujakowska KM, Han J, Woo SJ, Small KW. Mol Vis. 2024; 30:58-66. Epub 2024 Feb 19.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. [Am J Hum Genet. 2022]
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, et al. Am J Hum Genet. 2022 May 5; 109(5):909-927. Epub 2022 Apr 6.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia. [J Clin Invest. 2021]
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ, GOSgene, Torpiano JG, Formosa N, Cachia MJ, Field D, et al. J Clin Invest. 2021 Dec 15; 131(24).

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Nucleotide