Homo sapiens biotinidase (BTD), transcript variant 41, mRNA

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Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory. [Pediatr Int. 2024]
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Sharma R, Kucera CR, Nery CR, Lacbawan FL, Salazar D, Tanpaiboon P. Pediatr Int. 2024 Jan-Dec; 66(1):e15726.
Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin. [J Gene Med. 2024]
Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
Moatter T, Ahmed S, Majid H, Jafri L, Bilal M, Najumuddin, Faisal, Khan AH. J Gene Med. 2024 Jan; 26(1):e3597. Epub 2023 Sep 26.
Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. [J Pediatr Endocrinol Metab. 2023]
Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
Erdol S, Kocak TA, Bilgin H. J Pediatr Endocrinol Metab. 2023 Jun 27; 36(6):555-560. Epub 2023 May 1.

RefSeq alternative splicing
See 41 reference mRNA sequence splice variants for the BTD gene.
RefSeq protein product
See the reference protein sequence for biotinidase isoform 12 precursor (NP_001394330.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
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Nucleotide