Article

Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps

2023-01-15

Abstract excerpt

<h4>Background</h4> Pathogenic variants in PHGDH, PSAT1 , and PSPH cause a set of rare, autosomal recessive diseases known as serine biosynthesis defects. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu–Laxova syndrome, a lethal multiple congenital anomaly disease, intermediately in the form of infantile serine biosynthesis defects with severe neurologica...

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Literature Corpus work: dbb5ac86-7130-5593-afe2-2d0ac67c3d9e
DOI: 10.1101/2023.01.11.523651

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