Publications:

The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: EGFR: Ile365Asn

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

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Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Human Genome Variation

Hayashi, Shion S; Yokoi, Takayuki T; Hatano, Chihiro C; Enomoto, Yumi Y; Tsurusaki, Yoshinori Y; Naruto, Takuya T; Kobayashi, Masahisa M; Ida, Hiroyuki H; Kurosawa, Kenji K

Publication Date: 2018

Variant appearance in text: EGFR: 1094T>A; I365N

PubMed Link: 29899996

Variant Present in the following documents:

• Main text
• 41439_2018_Article_11.pdf

View BVdb publication page