loss-of-function mutation

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'loss-of-function mutation' can also refer to...

loss of function mutation

loss-of-function mutation

loss-of-function mutation

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Mutation of SOD1 in ALS: a gain of a loss of function

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

A Loss-of-Function Mutation in the Rice KNOX Type Homeobox Gene, OSH3

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms

PTHR1 mutations associated with Ollier disease result in receptor loss of function

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation


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Quick Reference

A genetic lesion that prevents the normal gene product from being produced or renders it inactive. An example of a loss of function mutation would be a nonsense mutation that causes polypeptide chain termination during translation. Loss of function mutations are generally recessive. Contrast with gain of function mutation.

Subjects: Genetics and Genomics — Medicine and Health.

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