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UnknownRothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.
Not available
S-EPMC9060067 | biostudies-literature
UnknownIFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Not available
S-EPMC2667992 | biostudies-literature
UnknownImplications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.
Not available
S-EPMC12402177 | biostudies-literature
UnknownCancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Not available
S-EPMC4402457 | biostudies-literature
UnknownThe CCP4 suite: integrative software for macromolecular crystallography.
Not available
S-EPMC10233625 | biostudies-literature
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