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Article

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

Clinical genetics - 1 Apr 2018

Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N

Abstract excerpt

A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 28975623
DOI: 10.1111/cge.13105

Genes

PACS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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