Publications:

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.

Diagnostics (Basel, Switzerland)

Pan, Chaolan C; Zhao, Anqi A; Li, Ming M

Publication Date: 2022-09-09

Variant appearance in text: PC: 1612C>T

PubMed Link: 36140582

Variant Present in the following documents:

• Main text
• diagnostics-12-02177.pdf

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Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.

Genetics And Molecular Biology

Silva, Gerda Cristal Villalba GCV; Borsatto, Taciane T; Schwartz, Ida Vanessa Doederlein IVD; Sperb-Ludwig, Fernanda F

Publication Date: 2022

Variant appearance in text: PC: 1612C>T

PubMed Link: 35167647

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20200432.pdf

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Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Frontiers In Pediatrics

Maguolo, Alice A; Rodella, Giulia G; Dianin, Alice A; Monge, Irene I; Messina, Martina M; Rigotti, Erika E; Pellegrini, Francesca F; Molinaro, Grazia G; Lupi, Fiorenzo F; Pasini, Andrea A; Campostrini, Natascia N; Ion Popa, Florina F; Teofoli, Francesca F; Vincenzi, Monica M; Camilot, Marta M; Piacentini, Giorgio G; Bordugo, Andrea A

Publication Date: 2021

Variant appearance in text: PC: 1612C>T

PubMed Link: 34136440

Variant Present in the following documents:

• Main text
• fped-09-661416.pdf

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