LAMA1 c.5626G>C ;(p.A1876P)

Variant ID: 18-6985270-C-G

NM_005559.3(LAMA1):c.5626G>C;(p.A1876P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs11664063
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs11664063
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs11664063
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs11664063
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia.

Clinical Ophthalmology (Auckland, N.Z.)
Sasaki, Sayaka S; Ota, Masao M; Meguro, Akira A; Nishizaki, Ritsuko R; Okada, Eiichi E; Mok, Jeewon J; Kimura, Tetusya T; Oka, Akira A; Katsuyama, Yoshihiko Y; Ohno, Shigeaki S; Inoko, Hidetoshi H; Mizuki, Nobuhisa N
Publication Date: 2007-09

Variant appearance in text: rs11664063
PubMed Link: 19668483
Variant Present in the following documents:
  • Main text
  • opth-1-289.pdf
View BVdb publication page