Literature summary for 1.3.99.5 extracted from

Kim Sung Hoo, K.S.; Kim Kun Su, K.K.; Kim Gu Hwa, K.G.; Kang Byung Moo, K.B.; Yoo Han Woo, Y.H.
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism (2006), Fertil. Steril., 85(750), e9-e12.

Search for more literature for 1.3.99.5

Application

Application	Comment	Organism
medicine	two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Korean sisters with male pseudohermaphroditism	-

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Release 2023.1 (January 2023)