ESR1 c.1087_1096+49del

Variant ID: 6-152265634-GAGGGTGCCAGGTAAGAATGCGAAGCGCAGCTTTTAAGAGTCAATAGCTTTTCAAGAACT-G

NM_000125.3(ESR1):c.1087_1096+49del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Bmc Genetics
Haidar, Zahraa Z; Temanni, Ramzi R; Chouery, Eliane E; Jithesh, Puthen P; Liu, Wei W; Al-Ali, Rashid R; Wang, Ena E; Marincola, Francesco M FM; Jalkh, Nadine N; Haddad, Soha S; Haidar, Wassim W; Chouchane, Lotfi L; Mégarbané, André A
Publication Date: 2017-01-19

Variant appearance in text: ESR: 1087_1706del
PubMed Link: 28103792
Variant Present in the following documents:
  • Main text
  • 12863_2017_Article_471.pdf
View BVdb publication page