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| Possible mitochondrial disorder - nuclear genes v0.5 | PYCR1 | Ivone Leong reviewed gene: PYCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, 612940, Cutis laxa, autosomal recessive, type IIIB, 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.4 | PYCR1 |
Ivone Leong gene: PYCR1 was added gene: PYCR1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 |
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