August 18, 2021Open Access

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach

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Abstract

). Among them, only the NPHS2 R229Q variant was subject to interallelic interactions. The proposed algorithm identifies frequent IP variants and estimates their penetrance and interallelic interactions in large patient cohorts.

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Mikó et al. (Wed,) studied this question.

synapsesocial.com/papers/69f5761ecd9962a2a7794f92 https://doi.org/https://doi.org/10.1002/humu.24273

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